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Chapter 8 “Mendel and Heredity”
Chapter 8 “Mendel and Heredity”

... • A pedigree is a diagram that shows how a family trait is inherited over several generations. • They are helpful if the trait is a genetic disorder and the family members want to know if they are carriers. • Carriers are individuals who are heterozygous for an inherited disorder but do not show sym ...
Ch 14 In a Nutshell
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Detachments from duplication bearing females
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National Human Genome Research Institute
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The principles and methods formulated by Gregor

... inheritance of X and Y chromosomes. During meiosis in a female, the two Xchromosomes separate, so each egg has a single X-chromosome. In males, even though the X and the Y-chromosomes are very different, they can nevertheless pair with each other and separate from each other during meiosis. This mea ...
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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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