Transcription - MCAT Biological and Biochemical Foundations of Living Systems

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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.

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A karyotype of this individual for chromosomes 14 and 21 would thus appear as follows:

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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 chromosome 21, parts of the DNA are converted to protein, while other parts are interspersed, but do not correlate to the final protein sequence. The portions of the DNA that code for final amino acid sequence are called                     .

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In the splicing model of DNA expression, certain regions of DNA are converted to proteins while intervening portions are cut out. The portions of "junk DNA" are known as introns, while exons are the sequences actually converted to protein. Okazaki fragments may appear tempting, but actually refers to fragments of DNA synthesized during replication of the lagging strand.

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