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Letter to the Editor High Frequency of the Deafness-Associated 167delT

Summary: Letter to the Editor
High Frequency of the Deafness-Associated 167delT
Mutation in the Connexin 26 (GJB2) Gene in
Israeli Ashkenazim
To the Editor:
In a study of an American Ashkenazi Jewish popu-
lation (555 individuals), Morell et al. have reported a
particularly high carrier rate (4.03%) of the 167delT
mutation in the connexin 26 (GJB2) gene [Morell et al.,
1998], which is associated with non-syndromic reces-
sive deafness [Denoyelle et al., 1997; Kelsell et al.,
1997]. We have now screened an Israeli Ashkenazi
population (467 individuals) for mutations in connexin
26 and have determined a carrier rate of 2.78% of the
167delT mutation. Although the carrier rate for the
167delT mutation within our sample group was some-
what lower than that reported by Morell et al. [1998], it
was within their reported 95% confidence interval (2.5
6.0%) and nonetheless quite high when considering the
situation in general of disease-carrying alleles in a


Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University


Collections: Biology and Medicine