Abstract
Lesch-Nyhan syndrome is caused by complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT). By the analysis of genomic DNA and mRNA using polymerase chain reaction (PCR) technique coupled with direct sequencing of the HPRT gene, five independent mutations in HPRT genes have been identified in Korean Lesch-Nyhan families. Two novel mutations (533-9T→A and 631delA) and three previously reported mutations (310insG, Q109X, and 289delGT) have been found in five independent families. In two previously reported mutations (Q109X, and 289delGT), we first detected secondary abnormal mRNAs with splicing error. Heterozygous carriers were detected in all the families, and prenatal diagnosis was carried out in two families.
