Genotyping and expression of 5 X-chromosome exonic polymorphic genes.

(A) Genotype determination and sequence analysis of BTK andFHL1. Sequencing using reverse primers is shown. (B) Genotypes of MPP1 and G6PD. (C) FHL1and BTK are subject to X-chromosome inactivation. Clonal expression of IDS, FHL1, and BTK(shown here patients no. 38 and no. 37) was detected in platelets (PLT) and granulocytes (GNC); the weak upper band of IDSexpression in GNC was 3.35% of the major band, which is clearly outside the normal range,41 whereas T lymphocytes were polyclonal. (D) IDS, MPP1, and G6PDexpression patterns using SSCP analysis (the RNA mixture of PLT and GNC was used). Lanes 1 and 2, expression patterns of homozygosity inIDS, MPP1 and G6PD; lane 3, expression pattern of heterozygosity.