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Determination of the carrier frequency of the common GJB2 (connexin‐26) 35delG mutation in the Belgian population using an easy and reliable screening method
Author(s) -
Storm Katrien,
Willocx Sandra,
Flothmann Kris,
Van Camp Guy
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)14:3<263::aid-humu10>3.0.co;2-x
Subject(s) - biology , genetics , mutation , mutagenesis , allele , mutation frequency , polymerase chain reaction , population , gene , allele frequency , microbiology and biotechnology , demography , sociology
Mutations in the gene GJB2, encoding the gap‐junction protein connexin‐26, have been shown to be a major cause of nonsyndromic recessive deafness (NSRD). A single mutation in the GJB2 gene accounts for the majority of NSRD in many different populations. This mutation represents a deletion of a guanine within a stretch of six Gs between nucleotide positions +30 and +35 of the GJB2 cDNA (35delG). Molecular detection of the 35delG mutation is usually performed by direct sequencing analysis of PCR products, or by allele‐specific PCR analysis. To screen for this mutation, we developed an easier and more reliable method, based on the principle of PCR‐mediated site‐directed mutagenesis (PSDM), followed by a BsiYI digestion. We tested 360 unrelated unaffected Belgian individuals for heterozygosity of the 35delG mutation and found a carrier frequency of 1 in 40 (95% CI, 1 in 30 to 1 in 60). As our new screening method is simple and reliable in use, and detects a mutation responsible for a significant part of NSRD, it may find widespread use in DNA diagnostics. Hum Mutat 14:263–266, 1999. © 1999 Wiley‐Liss, Inc.