Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients.
作者： İ Barış , MO Kılınç , A Tolun
DOI: 10.1034/J.1399-0004.2001.600608.X
关键词:
摘要: The 35delG mutation in the connexin 26 gene (GJB2) at DFNB1 locus is most common patients with autosomal-recessive sensorineural deafness. Genetic diagnosis crucial for genetic counseling. We have developed an easy and simple method screened a total of 235 unrelated hearing-impaired children. found 48 subjects to be homozygous mutation, including 27 83 familial cases, 15 101 singletons, 4 9 born assortative marriages (deaf married deaf), 2 42 whom parents claimed environmental factor as etiology condition. high ratio individuals indicated that accounts more than 90% mutations this locus.
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