Genetics of XLA
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affected people are always males
this is characteristic of X-linked recessive
Genetic defect in XLA
chromosomes 2, 14, 22 have genes involved in antibody production
this particular B cell gene, however, is on the X chromosome. affected males cannot produce any B cells
carrier females, however, have what looks like nonrandom X inactivation because the B cells that can’t develop properly just die. so, the B cells that do live all have the same X chromosome active. in the rest of the body, the X inactivation is random (50-50)
Category: Pathology Notes
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