Nucleotide substitutions in the SH2D1A gene in families K081 and K089.

(A) Pedigree K081 shows XLP female carriers (1), normal persons (2), and affected males (3, 4). (B) Direct sequencing of PCR products demonstrating a nucleotide substitution (C462T) in exon 2 that causes a premature stop in the translation of SH2D1A. The status of the SH2D1A gene in an obligate carrier (1), unaffected person (2), and affected persons (3, 4).