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X chromosome inactivation

Genetics as it applies to evolution, molecular biology, and medical aspects.

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X chromosome inactivation

Postby Nelsson on Wed Apr 23, 2008 12:56 pm

Hi! when a X chromosome inactivates in a female fetus, creating a Barr body, this happens independently and random. The random selection of which of the X chromosomes( maternal and paternal) to be inactivated in each cell, results in a female "mosaic", where the genes in the paternal X chromosome is expressed in some cells, and the maternal one i other cells.
What if this female person is heterozygot for a hereditary sex-linked disease on the X-chromosome, in what way does this affect the person? If approximately half of her cells express the allele causing the disorder and the other half expressing the "normal" allele, will she the be sick or not?
Nelsson
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Postby Darby on Wed Apr 23, 2008 8:21 pm

Most of those conditions are considered recessive for the reason you're asking about, but it's a system-wide response. Some cells express the disease, but not enough to affect the whole individual.
Darby
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Postby Cat on Mon Apr 28, 2008 1:41 am

The second X chromosome is not completely inactive. Don't forget about pseudoautosomal regions!
Cat
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