X-linked recessive inheritance: Difference between revisions

Revision as of 02:00, 17 March 2007

Revision as of 02:11, 17 March 2007

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In humans, ''generally'' "men are affected and women are carriers" for two reasons. The first is the simple statistical fact that if 1% (1 in 100) of all X-chromosomes carry an X-linked mutation and then 1 in 100 men (1% of them) are likely to express the mutation while 1 in 10,000 women (0.01% of them) are likely to. Thus, X-linked mutations tend to be rare in women. The second reason for female rarity is that women who ''express'' the mutation must have two X chromosomes that carry the trait and they necessarily got one from their father... who would have also expressed the trait because he only had one X chromosome in the first place (that's why he was male). If the trait lowers the probability of fathering a child or induces the father to only have children with women who aren't carriers (so as not to create daughters who are carriers rather than expressers and then only if no [[genetic screening]] is used) then women become even ''less'' likely to express the trait than the statistical prediction of 0.01%. (Note that the percentages are examples based on an assumption that 1% of X chromosomes carry the trait, if that number changes so do the other numbers).

==Examples==

Red-Green [[color blindness]] is a classic example of an X-linked trait because it is easy to explain the phenotype and it's relatively common (7% to 10% of men are carriers making the above calculations predict 0.49% to 1% for women). It's commonness is possibly attributable to it not being a serious disability in most cases and an actual advantage in some situation (for example, not being distracted by some of the color in color based camouflage). [[Hemophilia A]] is another famous example because it was found in European royal families who intermarried and were famous enough that their pedigrees could be established and offered in textbooks as a "famous example" of an X-linked trait that had been documented in history books before mendelian genetics was understood.

Traits or diagnoses known or suspected to be X-linked (at least in some forms of the diagnosis) are: