Genetics - MCAT Biological and Biochemical Foundations of Living Systems
Card 1 of 888
Consider the pedigree. If individual 20 is not affected, what is the probability individual 21 will be a carrier?
Consider the pedigree. If individual 20 is not affected, what is the probability individual 21 will be a carrier?
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We can tell from the pedigree that the trait is X-linked recessive. The mother, individual 20, will have the genotype 
, where 
represents the recessive trait. If individual 20 is unaffected, then he has the genotype 
. The daughter, individual 21, will receive the unaffected paternal X-chromosome and an affected maternal X-chromosome; thus, there is a 100% probability that she will be a carrier.
We can tell from the pedigree that the trait is X-linked recessive. The mother, individual 20, will have the genotype
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One example of genetic codominance is blood typing; the A and B alleles are both dominant to the O allele. An individual's blood type is O only if they are homozygous for the O allele. A types can result from either AA or AO combinations, and B blood types work in a similar way. Which parental combination has no chance of producing offspring with a blood type of A?
One example of genetic codominance is blood typing; the A and B alleles are both dominant to the O allele. An individual's blood type is O only if they are homozygous for the O allele. A types can result from either AA or AO combinations, and B blood types work in a similar way. Which parental combination has no chance of producing offspring with a blood type of A?
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The results of blood typing crosses can be calculated in the same way as those of traditional crosses: with Punnett squares. If we put the AB (maternal) genotype along one side of the square and the BB (paternal) genotype along the other, we see that only two genotypes are present in the offspring. 50% will be AB and 50% will be BB (a blood type of B); therefore, A is not one of the blood types present in the offspring, so this is our answer.
All of the other answer choices have a possibility of producing A type offspring.
The results of blood typing crosses can be calculated in the same way as those of traditional crosses: with Punnett squares. If we put the AB (maternal) genotype along one side of the square and the BB (paternal) genotype along the other, we see that only two genotypes are present in the offspring. 50% will be AB and 50% will be BB (a blood type of B); therefore, A is not one of the blood types present in the offspring, so this is our answer.
All of the other answer choices have a possibility of producing A type offspring.
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A diploid human cell that is dividing will contain chromosomes. These chromosomes will each consist of chromatids. Fill in the corresponding blanks.
A diploid human cell that is dividing will contain chromosomes. These chromosomes will each consist of chromatids. Fill in the corresponding blanks.
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The diploid number is 46 and the haploid number is 23. When cells are dividing, each chromosome is present in duplicate copy. These chromosomes are composed of two chromatids each when they are replicated.
The diploid number is 46 and the haploid number is 23. When cells are dividing, each chromosome is present in duplicate copy. These chromosomes are composed of two chromatids each when they are replicated.
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Which of the following refers to the region of RNA responsible for binding ribosomes during prokaryotic translation?
Which of the following refers to the region of RNA responsible for binding ribosomes during prokaryotic translation?
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The Shine-Dalgarno sequence is located just upstream of the start codon on a strand of prokaryotic RNA. The sequence functions to bind the rRNA of the ribosome, recruiting it to the proper location to initial translation.
The Shine-Dalgarno sequence is located just upstream of the start codon on a strand of prokaryotic RNA. The sequence functions to bind the rRNA of the ribosome, recruiting it to the proper location to initial translation.
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If two parents do not have cystic fibrosis but are carriers for the disease, what are their odds of having a child with cystic fibrosis?
If two parents do not have cystic fibrosis but are carriers for the disease, what are their odds of having a child with cystic fibrosis?
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Carriers are heterozygotes. In the case of recessive inheritance, a carrier will not know that they are carrying a single allele for the disease. In the Punnett Square, crossing two heterozygotes will result in 25% homozygous dominant and 50% heterozygous carriers, with 25% homozygous recessive who will have cystic fibrosis
Carriers are heterozygotes. In the case of recessive inheritance, a carrier will not know that they are carrying a single allele for the disease. In the Punnett Square, crossing two heterozygotes will result in 25% homozygous dominant and 50% heterozygous carriers, with 25% homozygous recessive who will have cystic fibrosis
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Human chromosomes are divided into two arms, a long q arm and a short p arm. A karyotype is the organization of a human cell’s total genetic complement. A typical karyotype is generated by ordering chromosome 1 to chromosome 23 in order of decreasing size.
When viewing a karyotype, it can often become apparent that changes in chromosome number, arrangement, or structure are present. Among the most common genetic changes are Robertsonian translocations, involving transposition of chromosomal material between long arms of certain chromosomes to form one derivative chromosome. Chromosomes 14 and 21, for example, often undergo a Robertsonian translocation, as below.
A karyotype of this individual for chromosomes 14 and 21 would thus appear as follows:
Though an individual with aberrations such as a Robertsonian translocation may be phenotypically normal, they can generate gametes through meiosis that have atypical organizations of chromosomes, resulting in recurrent fetal abnormalities or miscarriages.
In der(14,21), which region of a chromosome might you expect to find in the center of its structure?
Human chromosomes are divided into two arms, a long q arm and a short p arm. A karyotype is the organization of a human cell’s total genetic complement. A typical karyotype is generated by ordering chromosome 1 to chromosome 23 in order of decreasing size.
When viewing a karyotype, it can often become apparent that changes in chromosome number, arrangement, or structure are present. Among the most common genetic changes are Robertsonian translocations, involving transposition of chromosomal material between long arms of certain chromosomes to form one derivative chromosome. Chromosomes 14 and 21, for example, often undergo a Robertsonian translocation, as below.
A karyotype of this individual for chromosomes 14 and 21 would thus appear as follows:
Though an individual with aberrations such as a Robertsonian translocation may be phenotypically normal, they can generate gametes through meiosis that have atypical organizations of chromosomes, resulting in recurrent fetal abnormalities or miscarriages.
In der(14,21), which region of a chromosome might you expect to find in the center of its structure?
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Telomeres are present at the ends of chromosomes. If one really understands the passage, one can see that Robertsonian translocation places the ends of chromosomes together to form the middle of the derivative chromosome. We would expect to find telomeres in this region.
Telomeres are present at the ends of chromosomes. If one really understands the passage, one can see that Robertsonian translocation places the ends of chromosomes together to form the middle of the derivative chromosome. We would expect to find telomeres in this region.
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Human chromosomes are divided into two arms, a long q arm and a short p arm. A karyotype is the organization of a human cell’s total genetic complement. A typical karyotype is generated by ordering chromosome 1 to chromosome 23 in order of decreasing size.
When viewing a karyotype, it can often become apparent that changes in chromosome number, arrangement, or structure are present. Among the most common genetic changes are Robertsonian translocations, involving transposition of chromosomal material between long arms of certain chromosomes to form one derivative chromosome. Chromosomes 14 and 21, for example, often undergo a Robertsonian translocation, as below.
A karyotype of this individual for chromosomes 14 and 21 would thus appear as follows:
Though an individual with aberrations such as a Robertsonian translocation may be phenotypically normal, they can generate gametes through meiosis that have atypical organizations of chromosomes, resulting in recurrent fetal abnormalities or miscarriages.
In a normal chromosome 14, what region of the chromosome exists between the p arm and the q arm?
Human chromosomes are divided into two arms, a long q arm and a short p arm. A karyotype is the organization of a human cell’s total genetic complement. A typical karyotype is generated by ordering chromosome 1 to chromosome 23 in order of decreasing size.
When viewing a karyotype, it can often become apparent that changes in chromosome number, arrangement, or structure are present. Among the most common genetic changes are Robertsonian translocations, involving transposition of chromosomal material between long arms of certain chromosomes to form one derivative chromosome. Chromosomes 14 and 21, for example, often undergo a Robertsonian translocation, as below.
A karyotype of this individual for chromosomes 14 and 21 would thus appear as follows:
Though an individual with aberrations such as a Robertsonian translocation may be phenotypically normal, they can generate gametes through meiosis that have atypical organizations of chromosomes, resulting in recurrent fetal abnormalities or miscarriages.
In a normal chromosome 14, what region of the chromosome exists between the p arm and the q arm?
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In a normal chromosome, the passage indicates that the p and q arm meet in the center. This central region of the chromosome is known as a centromere.
In a normal chromosome, the passage indicates that the p and q arm meet in the center. This central region of the chromosome is known as a centromere.
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The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
Chromosome 15 is an autosome. Which of the following is (are) true of all autosomes?
I. They contain histones
II. They determine chromosomal sex
III. They align on the metaphase plate during mitosis
The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
Chromosome 15 is an autosome. Which of the following is (are) true of all autosomes?
I. They contain histones
II. They determine chromosomal sex
III. They align on the metaphase plate during mitosis
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Autosomes are the chromosomes that are not sex chromosomes. Any numbered chromosome (1 through 22) is an autosome, while the X and Y chromosomes (the 23rd pair) are the sex chromosomes. Statement II is only true of the X and Y chromosomes. Statements I and III are true of all chromosomes.
Autosomes are the chromosomes that are not sex chromosomes. Any numbered chromosome (1 through 22) is an autosome, while the X and Y chromosomes (the 23rd pair) are the sex chromosomes. Statement II is only true of the X and Y chromosomes. Statements I and III are true of all chromosomes.
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The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
Imagine the child in figure 1 was diagnosed at birth with cystic fibrosis as well as Prader-Willi. Cystic fibrosis is due to a recessive genetic mutation on chromosome 7. Two years later, his parents have another child that has cystic fibrosis, but not Prader-Willi. Which of the following best explains why Prader-Willi and cystic fibrosis are not always inherited together ?
The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
Imagine the child in figure 1 was diagnosed at birth with cystic fibrosis as well as Prader-Willi. Cystic fibrosis is due to a recessive genetic mutation on chromosome 7. Two years later, his parents have another child that has cystic fibrosis, but not Prader-Willi. Which of the following best explains why Prader-Willi and cystic fibrosis are not always inherited together ?
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The law of independent assortment says that chromosomes, and thus most genes, align independently of each other when being passed from parent to child. In other words, chromosome 7 and chromosome 15 do not directly influence each other's inheritance patterns during meiosis in parental gametes, and can be sent to sperm or eggs in any combination.
The law of independent assortment says that chromosomes, and thus most genes, align independently of each other when being passed from parent to child. In other words, chromosome 7 and chromosome 15 do not directly influence each other's inheritance patterns during meiosis in parental gametes, and can be sent to sperm or eggs in any combination.
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The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
Based on the information in the passage, which of the following is true of Prader-Willi Syndrome?
I. It must involve a chromosomal deletion on the paternal chromosome 15
II. It must involve normal silencing of maternal chromosome 15
III. It is a sex-linked disorder because it involves chromosome 15
The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
Based on the information in the passage, which of the following is true of Prader-Willi Syndrome?
I. It must involve a chromosomal deletion on the paternal chromosome 15
II. It must involve normal silencing of maternal chromosome 15
III. It is a sex-linked disorder because it involves chromosome 15
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Prader-Willi must involve the silencing of maternal genes on chromosome 15, as well as some disruption of the paternal chromosome. A chromosomal deletion is one example of this kind of disruption, but could also be a nonsense mutation or frameshift mutation that renders the paternal DNA unable to be ultimately translated to protein.
Sex-linked disorders involve the X and Y chromosomes. Prader-Willi is inherited through chromosome 15, and is thus not sex-linked.
Prader-Willi must involve the silencing of maternal genes on chromosome 15, as well as some disruption of the paternal chromosome. A chromosomal deletion is one example of this kind of disruption, but could also be a nonsense mutation or frameshift mutation that renders the paternal DNA unable to be ultimately translated to protein.
Sex-linked disorders involve the X and Y chromosomes. Prader-Willi is inherited through chromosome 15, and is thus not sex-linked.
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A man with type AB blood marries a woman with type A blood. Which of the following blood types might their sons inherit?
A man with type AB blood marries a woman with type A blood. Which of the following blood types might their sons inherit?
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The genotype of the father is definitely AB. The genotype of the mother is either AA or AO.
Below are the Punnett squares that show that types A, B, and AB are possible. Note that the genotype AO will result in a type A phenotype, while the genotype BO will result in a type B phenotype.
The genotype of the father is definitely AB. The genotype of the mother is either AA or AO.
Below are the Punnett squares that show that types A, B, and AB are possible. Note that the genotype AO will result in a type A phenotype, while the genotype BO will result in a type B phenotype.
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Chromosomal aberrations, such as trisomy or monosomy, are often the result of nondisjunction during cell division. Nondisjunction is characterized by a malfunction during which stage of division?
Chromosomal aberrations, such as trisomy or monosomy, are often the result of nondisjunction during cell division. Nondisjunction is characterized by a malfunction during which stage of division?
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This question is asking about the phase of Meiosis, during which disjunction (separation) of chromosomes normally occurs. While Metaphase can sometimes be a seductive answer, note that disjunction officially occurs during Anaphase.
This question is asking about the phase of Meiosis, during which disjunction (separation) of chromosomes normally occurs. While Metaphase can sometimes be a seductive answer, note that disjunction officially occurs during Anaphase.
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Which answer choice correctly shows a frameshift mutation?
Which answer choice correctly shows a frameshift mutation?
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A framshift mutation is when an extra base is inserted into (or deleted from) a strand of DNA. When the DNA is transcribed, every codon downstream from the insertion is changed because the reading frame will be different. This will be the case for any mutations that affect a sequence of nucleotides that is not a multiple of three, for example a five-nucleotide deletion. Such mutations affect the three-nucleotide groupings for all codons following the mutation, and often result in a premature stop codon.
The correct answer is CGGTGAATAGGC 
CGGTGAATCAGGC. In the original sequence, the codons are CGG-TGA-ATA-GGC. In the second, they become CGG-TGA-ATC-AGG-C. The other answers show either insertions or deletions that do not shift the reading frame, or single nucleotide polymorphism (changing a single nucleotide to another).
Note that the reading frame does not change in the following 3-nucleotide insertion. Though there is an extra codon, the downstream sequence is not affected.
CGG-TGA-ATA-GGC 
CGG-TGA-AGA-CTA-GGC
A framshift mutation is when an extra base is inserted into (or deleted from) a strand of DNA. When the DNA is transcribed, every codon downstream from the insertion is changed because the reading frame will be different. This will be the case for any mutations that affect a sequence of nucleotides that is not a multiple of three, for example a five-nucleotide deletion. Such mutations affect the three-nucleotide groupings for all codons following the mutation, and often result in a premature stop codon.
The correct answer is CGGTGAATAGGC
Note that the reading frame does not change in the following 3-nucleotide insertion. Though there is an extra codon, the downstream sequence is not affected.
CGG-TGA-ATA-GGC
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Human chromosomes are divided into two arms, a long q arm and a short p arm. A karyotype is the organization of a human cell’s total genetic complement. A typical karyotype is generated by ordering chromosome 1 to chromosome 23 in order of decreasing size.
When viewing a karyotype, it can often become apparent that changes in chromosome number, arrangement, or structure are present. Among the most common genetic changes are Robertsonian translocations, involving transposition of chromosomal material between long arms of certain chromosomes to form one derivative chromosome. Chromosomes 14 and 21, for example, often undergo a Robertsonian translocation, as below.
A karyotype of this individual for chromosomes 14 and 21 would thus appear as follows:
Though an individual with aberrations such as a Robertsonian translocation may be phenotypically normal, they can generate gametes through meiosis that have atypical organizations of chromosomes, resulting in recurrent fetal abnormalities or miscarriages.
During meiosis, gametes result from the isolation of one chromosome from each of a human’s homologous 23 pairs. In Figure 2, der(14,21) is treated as a homologous pair to either 14 or 21. An egg, then, could be formed that had a normal chromosome 21 and the der(14,21) instead of the normal chromosome 14. If a sperm fertilizes this egg, and the sperm has a normal chromosome 14 and 21, what will result?
Human chromosomes are divided into two arms, a long q arm and a short p arm. A karyotype is the organization of a human cell’s total genetic complement. A typical karyotype is generated by ordering chromosome 1 to chromosome 23 in order of decreasing size.
When viewing a karyotype, it can often become apparent that changes in chromosome number, arrangement, or structure are present. Among the most common genetic changes are Robertsonian translocations, involving transposition of chromosomal material between long arms of certain chromosomes to form one derivative chromosome. Chromosomes 14 and 21, for example, often undergo a Robertsonian translocation, as below.
A karyotype of this individual for chromosomes 14 and 21 would thus appear as follows:
Though an individual with aberrations such as a Robertsonian translocation may be phenotypically normal, they can generate gametes through meiosis that have atypical organizations of chromosomes, resulting in recurrent fetal abnormalities or miscarriages.
During meiosis, gametes result from the isolation of one chromosome from each of a human’s homologous 23 pairs. In Figure 2, der(14,21) is treated as a homologous pair to either 14 or 21. An egg, then, could be formed that had a normal chromosome 21 and the der(14,21) instead of the normal chromosome 14. If a sperm fertilizes this egg, and the sperm has a normal chromosome 14 and 21, what will result?
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Since the maternal oocyte would have two copies of chromosome 21, the normal 21 and the derivative chromosome, the normal addition of the sperm would lead to a zygote with a total of three copies of chromosome 21, or trisomy 21. Polyploidy is a tempting choice, but polyploid is a state characterized by extra copies of multiple chromosomes, as might be expected from more than one sperm fertilizing an egg.
Since the maternal oocyte would have two copies of chromosome 21, the normal 21 and the derivative chromosome, the normal addition of the sperm would lead to a zygote with a total of three copies of chromosome 21, or trisomy 21. Polyploidy is a tempting choice, but polyploid is a state characterized by extra copies of multiple chromosomes, as might be expected from more than one sperm fertilizing an egg.
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Scientists use a process called Flourescent In-Situ Hybridization, or FISH, to study genetic disorders in humans. FISH is a technique that uses spectrographic analysis to determine the presence or absence, as well as the relative abundance, of genetic material in human cells.
To use FISH, scientists apply fluorescently-labeled bits of DNA of a known color, called probes, to samples of test DNA. These probes anneal to the sample DNA, and scientists can read the colors that result using laboratory equipment. One common use of FISH is to determine the presence of extra DNA in conditions of aneuploidy, a state in which a human cell has an abnormal number of chromosomes. Chromosomes are collections of DNA, the totality of which makes up a cell’s genome. Another typical use is in the study of cancer cells, where scientists use FISH labels to ascertain if genes have moved inappropriately in a cell’s genome.
Using red fluorescent tags, scientists label probe DNA for a gene known to be expressed more heavily in cancer cells than normal cells. They then label a probe for an immediately adjacent DNA sequence with a green fluorescent tag. Both probes are then added to three dishes, shown below. In dish 1 human bladder cells are incubated with the probes, in dish 2 human epithelial cells are incubated, and in dish 3 known non-cancerous cells are used. The relative luminescence observed in regions of interest in all dishes is shown below.
Which of the following genetic changes would not be detectable using FISH?
Scientists use a process called Flourescent In-Situ Hybridization, or FISH, to study genetic disorders in humans. FISH is a technique that uses spectrographic analysis to determine the presence or absence, as well as the relative abundance, of genetic material in human cells.
To use FISH, scientists apply fluorescently-labeled bits of DNA of a known color, called probes, to samples of test DNA. These probes anneal to the sample DNA, and scientists can read the colors that result using laboratory equipment. One common use of FISH is to determine the presence of extra DNA in conditions of aneuploidy, a state in which a human cell has an abnormal number of chromosomes. Chromosomes are collections of DNA, the totality of which makes up a cell’s genome. Another typical use is in the study of cancer cells, where scientists use FISH labels to ascertain if genes have moved inappropriately in a cell’s genome.
Using red fluorescent tags, scientists label probe DNA for a gene known to be expressed more heavily in cancer cells than normal cells. They then label a probe for an immediately adjacent DNA sequence with a green fluorescent tag. Both probes are then added to three dishes, shown below. In dish 1 human bladder cells are incubated with the probes, in dish 2 human epithelial cells are incubated, and in dish 3 known non-cancerous cells are used. The relative luminescence observed in regions of interest in all dishes is shown below.
Which of the following genetic changes would not be detectable using FISH?
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FISH is useful for visualizing major changes in the genome, as described by the passage. Translocations and large copy number variants would likley be visible in color changes, while small single nucleotide polymorphisms (SNPs) would likely be less easily detected.
FISH is useful for visualizing major changes in the genome, as described by the passage. Translocations and large copy number variants would likley be visible in color changes, while small single nucleotide polymorphisms (SNPs) would likely be less easily detected.
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Cryptosporidium is a genus of gastrointestinal parasite that infects the intestinal epithelium of mammals. Cryptosporidium is water-borne, and is an apicomplexan parasite. This phylum also includes Plasmodium, Babesia, and Toxoplasma.
Apicomplexans are unique due to their apicoplast, an apical organelle that helps penetrate mammalian epithelium. In the case of cryptosporidium, there is an interaction between the surface proteins of mammalian epithelial tissue and those of the apical portion of the cryptosporidium infective stage, or oocyst. A scientist is conducting an experiment to test the hypothesis that the oocyst secretes a peptide compound that neutralizes intestinal defense cells. These defense cells are resident in the intestinal epithelium, and defend the tissue by phagocytizing the oocysts.
She sets up the following experiment:
As the neutralizing compound was believed to be secreted by the oocyst, the scientist collected oocysts onto growth media. The oocysts were grown among intestinal epithelial cells, and then the media was collected. The media was then added to another plate where Toxoplasma gondii was growing with intestinal epithelial cells. A second plate of Toxoplasma gondii was grown with the same type of intestinal epithelium, but no oocyst-sourced media was added.
You are conducting a study of an isolated tribe in New Guinea, and you find that there is widespread resistance to cryptosporidium infection. Upon examination, you find that the resistance is caused by a change in one nucleotide pair in a gene on chromosome 13. What kind of genetic change does this likely reflect?
Cryptosporidium is a genus of gastrointestinal parasite that infects the intestinal epithelium of mammals. Cryptosporidium is water-borne, and is an apicomplexan parasite. This phylum also includes Plasmodium, Babesia, and Toxoplasma.
Apicomplexans are unique due to their apicoplast, an apical organelle that helps penetrate mammalian epithelium. In the case of cryptosporidium, there is an interaction between the surface proteins of mammalian epithelial tissue and those of the apical portion of the cryptosporidium infective stage, or oocyst. A scientist is conducting an experiment to test the hypothesis that the oocyst secretes a peptide compound that neutralizes intestinal defense cells. These defense cells are resident in the intestinal epithelium, and defend the tissue by phagocytizing the oocysts.
She sets up the following experiment:
As the neutralizing compound was believed to be secreted by the oocyst, the scientist collected oocysts onto growth media. The oocysts were grown among intestinal epithelial cells, and then the media was collected. The media was then added to another plate where Toxoplasma gondii was growing with intestinal epithelial cells. A second plate of Toxoplasma gondii was grown with the same type of intestinal epithelium, but no oocyst-sourced media was added.
You are conducting a study of an isolated tribe in New Guinea, and you find that there is widespread resistance to cryptosporidium infection. Upon examination, you find that the resistance is caused by a change in one nucleotide pair in a gene on chromosome 13. What kind of genetic change does this likely reflect?
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This would be an example of a single nucleotide polymorphism. A fairly common variant is some change at a single base pair in human DNA. It is possible that this base pair change results in a modified protein that functions just as well as the normal protein in most conditions.
Some of these changes may, simply by chance, be better at resisting disease. When exposed to stress, such as a disease epidemic, it is possible this variant of normal becomes the most widespread genotype. This is especially noticeable in an isolated population, like a tribe in New Guinea. Note that not all single nucleotide polymorphisms will have positive effects, and in some cases can cause disease instead of resistance.
This would be an example of a single nucleotide polymorphism. A fairly common variant is some change at a single base pair in human DNA. It is possible that this base pair change results in a modified protein that functions just as well as the normal protein in most conditions.
Some of these changes may, simply by chance, be better at resisting disease. When exposed to stress, such as a disease epidemic, it is possible this variant of normal becomes the most widespread genotype. This is especially noticeable in an isolated population, like a tribe in New Guinea. Note that not all single nucleotide polymorphisms will have positive effects, and in some cases can cause disease instead of resistance.
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An mRNA sequence is supposed to read UAUGGA, but a mutation replaces the second uracil base with guanine. What is the most specific term for this type of mutation?
An mRNA sequence is supposed to read UAUGGA, but a mutation replaces the second uracil base with guanine. What is the most specific term for this type of mutation?
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This mutation replaced UAU (a coding codon) with UAG (a stop codon). The most descriptive term for this kind of replacement is a nonsense mutation.
Note that an easy way to remember the stop codons is UGA ("u" get away), UAA ("u" are away), and UAG ("u" are gone).
This mutation replaced UAU (a coding codon) with UAG (a stop codon). The most descriptive term for this kind of replacement is a nonsense mutation.
Note that an easy way to remember the stop codons is UGA ("u" get away), UAA ("u" are away), and UAG ("u" are gone).
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A mutation within a gene results in the premature addition of a stop codon during translation. This describes which type of mutation?
A mutation within a gene results in the premature addition of a stop codon during translation. This describes which type of mutation?
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A nonsense mutation results in premature addition of a stop codon. A missense mutation is a point mutation that results in a different codon, which ultimately codes for a different amino acid in the polypetide sequence. A frameshift mutation results from and insertion or deletion of a nucleotide, resulting in a change in the reading frame. Frameshift mutations often indirectly result in nonsense mutations, but are not the best answer choice given.
A nonsense mutation results in premature addition of a stop codon. A missense mutation is a point mutation that results in a different codon, which ultimately codes for a different amino acid in the polypetide sequence. A frameshift mutation results from and insertion or deletion of a nucleotide, resulting in a change in the reading frame. Frameshift mutations often indirectly result in nonsense mutations, but are not the best answer choice given.
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Imagine there is a mutation in a gene where a nucleotide was replaced by another nucleotide. The mutation did not affect the primary structure of the protein for which the gene coded.
What type of mutation is this?
Imagine there is a mutation in a gene where a nucleotide was replaced by another nucleotide. The mutation did not affect the primary structure of the protein for which the gene coded.
What type of mutation is this?
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Whenever a base pair is replaced by another base pair in the DNA double helix, it is referred to as a point mutation. If the amino acid is not changed by the mutation, we can refer to the mutation as a silent mutation, as the primary protein structure is not affected.
Point mutation: CATGA becomes CAGGA
Insertion mutations occur when additional bases are inserted into the DNA sequence.
Insertion mutation: CATGA becomes CATACTGA
Frameshift mutations can result from insertions or deletions when the number of nucleotides added/removed is not a multiple of three. Since codons are grouped by threes, any change that is not a multiple of three will alter the grouping of every codon downstream of the mutation, severly altering the primary protein structure.
Frameshift mutation: CATGA becomes CAATGA
A nonsense mutation results in a premature stop codon, and early translation termination. This can arise from a frameshift mutation, point mutation, insertion, or deletion.
Nonsense mutation: CATGA becomesCATTTAGA (When transcribed, this sequence becomes the mRNA UCUAAAUG, where UAA is a stop codon).
Whenever a base pair is replaced by another base pair in the DNA double helix, it is referred to as a point mutation. If the amino acid is not changed by the mutation, we can refer to the mutation as a silent mutation, as the primary protein structure is not affected.
Point mutation: CATGA becomes CAGGA
Insertion mutations occur when additional bases are inserted into the DNA sequence.
Insertion mutation: CATGA becomes CATACTGA
Frameshift mutations can result from insertions or deletions when the number of nucleotides added/removed is not a multiple of three. Since codons are grouped by threes, any change that is not a multiple of three will alter the grouping of every codon downstream of the mutation, severly altering the primary protein structure.
Frameshift mutation: CATGA becomes CAATGA
A nonsense mutation results in a premature stop codon, and early translation termination. This can arise from a frameshift mutation, point mutation, insertion, or deletion.
Nonsense mutation: CATGA becomesCATTTAGA (When transcribed, this sequence becomes the mRNA UCUAAAUG, where UAA is a stop codon).
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Consider the pedigree. Is the trait dominant or recessive?
Consider the pedigree. Is the trait dominant or recessive?
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The trait is recessive because affected individuals do not occur in every generation. Additionally, dominant traits do not result in "carriers". Individuals are either affected or unaffected.
The trait is recessive because affected individuals do not occur in every generation. Additionally, dominant traits do not result in "carriers". Individuals are either affected or unaffected.
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