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blt

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Posts posted by blt


  1. I know it is very rare situation.

    But what is the genetic reason of lethality of XhXh?

    If mutation changes life-important gene at X chromosome, then XhY- should also be lethal. But it isn't. Many males live quite normally, and some of them even don't know they are sick.

     

    It's easy to understand why some mutations on X chromosome are lethal for males and aren't for females. Females have second X chromosome where healthy gene exists. This rescues females lives in many recesive X-linked diseases.

     

    But hemophilia is also recesive X-linked disease and situation is opposite. It's often not lethal for hemizygotic males (XhY-), where there is no chance for healthy gene, because there is no second X chromosome. It's lethal for homozygotic females (XhXh), where there is also no chance for healthy gene.

     

    Why it is like that?

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