A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness
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چکیده
منابع مشابه
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
Mutations in the DFNB1 locus, where two connexin genes are located (GJB2 and GJB6), account for half of congenital cases of nonsyndromic autosomal recessive deafness. Because of the high frequency of DFNB1 gene mutations and the availability of genetic diagnostic tests involving these genes, they are the best candidates to develop a risk prediction model of being hearing impaired. People underg...
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متن کاملConnexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further analysis with additional markers now identifies several recombinants which na...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2006
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.20390