May 2014 Alport Chronicles - Women and AS All you ever wanted to know about X-inactivation can be found in the attached publication by our beloved Dr. Rheault. Heres an excerpt: After controlling for disease mutation and genetic background, we have shown clearly that clinical manifestations in female carriers of XLAS are modified by X-inactivation. Our findings establish X-inactivation as a risk factor for disease progression and shed light on an abiding conundrum in Alport syndrome relevant to other X-linked disorders, namely, that in large human studies, genotype-phenotype correlations can be drawn for males but not females. Read the whole article here, and if you have any questions or need clarification in lay-womans terms on X-inactivation, please ask in the comments below! ndt.oxfordjournals.org/content/early/2009/11/09/ndt.gfp551.full.pdf+html
Posted on: Wed, 07 May 2014 02:59:38 +0000
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