A PCR-RFLP test for simultaneous detection of two single-nucleotide insertions in the Connexin-26 gene promoter

Mehmet Simsek, Nadia Al-Wardy, Aisha Al-Khayat, Mazin Al-Khabory

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Comparisons of Connexin-26 (GJB2) gene sequences available in the GenBank data base indicate the presence of a polymorphism in the promoter, but no easy method is available for the detection of this polymorphism. We have developed a PCR-RFLP test for simultaneous detection of two single nucleotide insertions (G and A) in the GJB2 promoter. The test is based on amplification of a 146-bp DNA fragment, which was digested with Mae I to detect the G insertion in the promoter. A similar digestion with Hinf I detects the A insertion. The test was validated using direct DNA sequencing of amplified DNA from 33 samples. After validation, we have used it to investigate DNA samples from 160 control subjects and 51 unrelated patients with nonsyndromic autosomal recessive deafness. All of the samples analyzed using the PCR test and DNA sequencing were found to contain both the G and A insertions in the GJB2 gene promoter. This PCR test will be useful in studying the prevalence of these two insertions in other populations.

Original languageEnglish
Pages (from-to)225-228
Number of pages4
JournalGenetic Testing
Volume6
Issue number3
DOIs
Publication statusPublished - Sep 2002

ASJC Scopus subject areas

  • Genetics(clinical)

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