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Determination of the carrier frequencies of selected GJB2 mutations in the Korean population.

Abstract：

OBJECTIVE:Mutations in the GJB2 gene are a major cause of hereditary hearing loss. However, only a few studies have investigated carrier frequencies of GJB2 mutations in the general population. The aim of this study was to estimate the carrier frequencies of three GJB2 mutations, including 235delC, V37I, and G45E, in the general Korean population. DESIGN:A standard questionnaire of self-reported hearing loss was used to identify and recruit subjects. Screening for three mutations was performed using an allele-specific polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism, and direct DNA sequencing. STUDY SAMPLE:A total of 1256 unrelated healthy individuals were analysed in the present study. RESULTS:Of the 1256 individuals, 24 had GJB2 mutations; 11 were found to be heterozygous for 235delC, 11 were heterozygous and one was homozygous for V37I, and one was heterozygous for G45E. One individual had a compound heterozygous mutation of 235delC/V37I. The allele frequencies of 235delC, V37I, and G45E mutations were 0.44%, 0.52%, and 0.04%, respectively. The carrier frequency of either the 235delC or V37I mutation was estimated to be 0.88% with 95% binomial CI, 0.44-1.56. CONCLUSIONS:These results will facilitate diagnosis of, and genetic counseling for, hearing loss in Koreans.

journal_name

Int J Audiol

journal_title

International journal of audiology

authors

Kim SY,Lee BY,Lim JH,Ryu HM,Yang JH,Chung JH,Han HW,Park SY

doi

10.3109/14992027.2011.563247

subject

Has Abstract

pub_date

2011-10-01 00:00:00

pages

694-8

issue

10

eissn

1499-2027

issn

1708-8186

journal_volume

50

pub_type

杂志文章

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