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Human Inheritance
Human Inheritance

... haploid sperm containing 23 chromosomes fertilizing a haploid egg also carrying 23 chromosomes (23+23=46) • Karyotypes are used to detect chromosomal disorders and to determine the sex of an ...
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... treated with ICSI. In effect, this approach treats the disorder with little knowledge of the possible consequences for the patient and/or their potential children.4 There is evidence that some cases of male infertility have an underlying genetic basis.6 Furthermore, severe male-factor infertility ha ...
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... differences, an understanding of the precise variations at the nucleotide level between strains is an important step in elucidating the underlying causes of phenotypic differences. Since its origin, W303 has been widely used for genetic analyses of DNA repair and other biological mechanisms (THOMAS ...
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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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