Exclusion of the stomatin, ?-adducin and ?-adducin loci in a large kindred with dehydrated hereditary stomatocytosis

✍ Scribed by Innes, David Scott; Sinard, John H.; Gilligan, Diana M.; Snyder, L. Michael; Gallagher, Patrick G.; Morrow, Jon S.

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 56 KB
• Volume: 60
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199901)60:1<72::aid-ajh13>3.0.co;2-8

✦ Synopsis

Defects in stomatin, ␣-adducin, and ␤-adducin have been implicated in erythrocyte disorders of cation permeability. We performed linkage analysis of the genetic loci for these proteins in a large kindred with xerocytosis (dehydrated hereditary stomatocytosis). Using polymerase chain reaction-based genotyping techniques, all three loci are excluded as disease gene candidates. Am.