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Pierce Genetics: A Conceptual Approach 3e
Pierce Genetics: A Conceptual Approach 3e

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Chromosomes and Genes - hrsbstaff.ednet.ns.ca
Chromosomes and Genes - hrsbstaff.ednet.ns.ca

... The remaining pair of human chromosomes consists of the sex chromosomes, X and Y. Females have two X chromosomes, and males have one X and one Y chromosome. In females, one of the X chromosomes in each cell is inactivated and known as a Barr body. This ensures that females, like males, have only one ...
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What Should I Know for the HUMAN GENOME TEST? Chapter 14

... Slide show Chapter ?’s Starts with? Disorders study sheet What is a mutation? What is the difference between a germ cell mutation and a somatic cell mutation? Which of these is passed on to offspring? How can mutations be beneficial? What is a lethal mutation? What is a sex linked gene? How are twin ...
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Skewed X-inactivation

Skewed X chromosome inactivation occurs when the inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. It is usually defined as one allele being found on the active X chromosome in over 75% of cells, and extreme skewing is when over 90% of cells have inactivated the same X chromosome. It can be caused by primary nonrandom inactivation, either by chance due to a small cell pool or directed by genes, or caused by secondary nonrandom inactivation, which occurs by selection. Most females will have some levels of skewing. It is relatively common in adult females; around 35% of women have skewed ratio over 70:30, and 7% of women have an extreme skewed ratio of over 90:10. This is of medical significance due to the potential for the expression of disease genes present on the X chromosome that are normally not expressed due to random X inactivation. X chromosome inactivation occurs in females to provide dosage compensation between the sexes. If females kept both X chromosomes active they would have twice the number of active X genes than males, who only have one copy of the X chromosome. At approximately the time of implantation (see Implantation (human embryo), one of the two X chromosomes is randomly selected for inactivation. The cell undergoes transcriptional and epigenetic changes to ensure this inactivation is permanent. All progeny from these initial cells will maintain the inactivation of the same chromosome, resulting in a mosaic pattern of cells in females.
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