J Korean Med Sci.  1997 Aug;12(4):332-339. 10.3346/jkms.1997.12.4.332.

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome

• Kim KJ
• Yamada Y
• Suzumori K
• Choi Y
• Yang SW
• Cheong HI
• Hwang YS
• Goto H
• Ogasawara

• KMID: 1081056
• DOI: http://doi.org/10.3346/jkms.1997.12.4.332

Abstract

Lesch-Nyhan syndrome is caused by the complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT). By the analysis of genomic DNA and mRNA using the polymerase chain reaction (PCR) technique coupled with direct sequencing, five independent mutations in HPRT genes have been identified in Korean Lesch-Nyhan families. Two novel mutations and three previously reported mutations have been found in five independent families. Heterozygous carriers were detected in all the families, and prenatal diagnosis was carried out in two families.

MeSH Terms

Case Report
Exons*
Human
Hypoxanthine Phosphoribosyltransferase/genetics*
Korea
Lesch-Nyhan Syndrome/genetics*
Male
Pedigree
Point Mutation*
Polymerase Chain Reaction/methods
Prenatal Diagnosis/methods
Transcription, Genetic