DELETION PATTERN OF THE STEROID SULFATASE GENE IN JAPANESE PATIENTS WITH X-LINKED ICHTHYOSIS

Most caucasian patients with X-linked ichthyosis (XLI) reportedly disp lay large genomic deletions involving the entire steroid sulphatase (S TS) gene and flanking regions. In this study, we investigated the dele tion patterns of the STS gene and nanking regions in 12 unrelated Japa nese patients with XLI using the polymerase chain reaction method with 10 markers, including the 5' and 3' ends of the STS gene. Eleven of t he 12 patients exhibited deletion of this entire gene, whereas the twe lfth patient showed no evidence of deletion. In 10 of the 12 patients, the entire region from DXS1139 to DXF22S1 was deleted, the most commo n deletion pattern observed in caucasian patients, indicating that the re are no racial or ethnic differences.