A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

ABSTRACT: 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 undergoing genetic counseling are normally interested in knowing the probability of having a hearing impaired child given his/her family history. To address this, a Mendelian model that predicts the probability of being a carrier of DFNB1 mutations, using family history of deafness, has been developed. This probability will be useful as additional information to decide whether or not a genetic test should

SUBMITTER: Gonzalez JR 

PROVIDER: S-EPMC2268028 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature