Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews

Jianli Dong, David R. Katz, Christine M. Eng, Ruth Kornreich, Robert J. Desnick

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Mutations in the gap junction β2 (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.

Original languageEnglish (US)
Pages (from-to)160-163
Number of pages4
JournalMolecular Genetics and Metabolism
Volume73
Issue number2
DOIs
StatePublished - 2001
Externally publishedYes

Fingerprint

Jews
Connexins
Deafness
Mutation Rate
Screening
Mutation
Oligonucleotides
Frameshift Mutation
Gap Junctions
Assays
Genes
Alleles
Newborn Infant
Connexin 26
Population

Keywords

  • Allele-specific oligonucleotide hybridization
  • Ashkenazi Jewish population
  • Connexin 26
  • Nonradioactive
  • Nonsyndromic recessive deafness

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. / Dong, Jianli; Katz, David R.; Eng, Christine M.; Kornreich, Ruth; Desnick, Robert J.

In: Molecular Genetics and Metabolism, Vol. 73, No. 2, 2001, p. 160-163.

Research output: Contribution to journalArticle

Dong, Jianli ; Katz, David R. ; Eng, Christine M. ; Kornreich, Ruth ; Desnick, Robert J. / Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. In: Molecular Genetics and Metabolism. 2001 ; Vol. 73, No. 2. pp. 160-163.
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