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Genetics of Duane`s Retraction Syndrome

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Introduction to Angelfish Genetics
Introduction to Angelfish Genetics

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... X chromosomes at the next mitosis would result in homozygosity for Xp11.2?qter markers in all cases. In G1 translocation scenario B (Fig. 1), one third of cases would show homozygosity for these same markers. However, in a G2 translocation scenario (Fig. 1), the der(17) would segregate with 2 normal ...
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Considerations for Analyzing Targeted NGS Data – HLA

...  Lots of similar genes and lots of very similar pseudegenes.  Duplicated segments can be more similar to each other within an individual than they are similar to the corresponding segments of the reference genome. ...
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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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