Article
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
Genetic testing - 1 Jan 2007
Bouwer Sonja, Angelicheva Dora, Chandler David, Seeman Pavel, Tournev Ivailo, Kalaydjieva Luba
Abstract excerpt
Mutations in the GJB2 gene are the most common cause of autosomal recessive nonsyndromic hearing loss and occur in approximately 20% of all cases of prelingual deafness. Previous studies of Roma/Gypsies in Slovakia, the Czech Republic, and Spain have shown that W24X, the most common GJB2 mutation in India, is also the prevalent molecular defect in the Gypsy population. The reported W24X frequencies vary broadly...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.