title: Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.
abstract: Mutations in the gap junction beta2 (GJB2) gene, Connexin 26 (Cx26), cause nonsyndromic sensorineural recessive deafness (NSRD). Two frameshift mutations, 167delT and 35delG, are the most frequent Cx26 lesions causing NSRD. The 35delG mutation is panethnic, while the 167delT lesion occurs almost exclusively in the Ashkenazi Jewish population at a carrier frequency of 2 to 4%. To facilitate carrier detection, a simple nonradioactive allele-specific oligonucleotide (ASO) hybridization assay was developed for the 167delT and 35delG mutations. Screening of 1012 anonymous Ashkenazi Jewish individuals from the New York Metropolitan area revealed carrier frequencies for 167delT and 35delG of 3.96% (95% CI: 2.75-5.15%) and 0.69% (95% CI: 0.18-1.20%), respectively. This sensitive, specific, and relatively inexpensive method can reliably identify affected newborns and patients with NSRD as well as facilitate carrier screening for Connexin 26 deafness in the Ashkenazi Jewish community.
authors.affiliation: Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA.
authors.forename: J
authors.initials: J
authors.lastname: Dong
authors.forename: D R
authors.initials: DR
authors.lastname: Katz
authors.forename: C M
authors.initials: CM
authors.lastname: Eng
authors.forename: R
authors.initials: R
authors.lastname: Kornreich
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004076:Digoxigenin; D005787:Gene Frequency; D007585:Jews / Q000235:genetics*; D009154:Mutation; D009693:Nucleic Acid Hybridization / Q000379:methods; D009841:Oligonucleotides / Q000235:genetics; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D009841:Oligonucleotides; D000072259:Connexin 26; D004247:DNA; D004076:Digoxigenin