Screening for molecular pathologies in Lesch-Nyhan syndrome

✍ Scribed by Marie Boyd; W. George Lanyon; J. Michael Connor

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 378 KB
• Volume: 2
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.1380020212

✦ Synopsis

Communicated by Uta Fruncke

Heteroduplex detection by hydrolink gel electrophoresis was performed to screen for small mutations in 12 Lesch-Nyhan syndrome families with characterised molecular pathology which included nine point mutations, two small deletions, and a 1-bp insertion. This modified protocol for heteroduplex detection by hydrolink gel electrophoresis detected all 12 of these mutations and was utilised to rapidly determine the carrier status of females from affected families. On the basis of these results this approach appears to be a rapid and reliable screening method for point mutations in addition to small length mutations and for carrier detection in Lesch-Nyhan syndrome. o 1993 WiIey-Liss, Inc.