Intragenic deletions in the SH2D1A gene in families K055 and K061.

(A) Pedigree K055 shows XLP female carriers (2-4) affected males (9, 10) and unaffected persons (1, 5-8). (B) PCR product amplified with XLP2 primer pairs. Consistent with the pedigree, lanes 1, 5, 6, 7, and 8 indicate the product of 380 bp of normal SH2D1A. Lanes 2, 3, and 4 show the result of the PCR on DNA obtained from the obligate carriers; normal (380 bp) and mutant (291 bp) alleles are present. Lanes 9 and 10 display the result of PCR on DNA from affected males.