Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

A large inbred kindred from Pakistan in which an isolated type of split-hand/split-foot anomaly is transmitted as an X-chromosomal trait has previously been described. An X/autosomal translocation and an X-chromosomal rearrangement have been excluded by cytogenetic studies. In order to map the gene responsible for this disorder, linkage analysis has been performed by using 14 highly polymorphic DNA markers distributed over the whole X chromosome. Two-point linkage analysis between the disease locus and X-chromosomal marker loci gives maximal lod scores at theta = 0.00 with the loci DXS294 (Zmax = 5.13) and HPRT (Zmax = 4.43), respectively, suggesting that the gene for the X-chromosomal split-hand/split-foot anomaly is localized at Xq26-q26.1.