Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians

Mustafa Tekin, N. Akar, Ş Cin, Susan H Blanton, X. J. Xia, Xue Z Liu, W. E. Nance, A. Pandya

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

Mutations in the Connexin 26 (GJB2/Cx26) gene are responsible for more than half of all cases of prelingual non-syndromic recessive deafness in many Caucasian populations. To determine the importance of Cx26 mutations as a cause of deafness in Turks we screened 11 families with prelingual non-syndromic deafness, seven (64%) of which were found to carry the 35delG mutation. We subsequently screened 674 Turkish subjects with no known hearing loss and found twelve 35delG heterozygotes (1.78%; 95% confidence interval: 0.9%-3%) but no examples of the 167delT mutation. To search for possible founder effects, we typed chromosomes carrying the 35delG mutation for closely linked polymorphic markers in samples from Turkey and United States and compared the allele frequencies with those of hearing subjects. The data showed a modest degree of disequilibrium in both populations. Analyses of two pedigrees from Turkey demonstrated both conserved and different haplotypes, suggesting possible founder effects and multiple origins of the 35delG mutation.

Original languageEnglish
Pages (from-to)385-389
Number of pages5
JournalHuman Genetics
Volume108
Issue number5
DOIs
StatePublished - Jun 11 2001
Externally publishedYes

Fingerprint

Mutation Rate
Mutation
Deafness
Population
Founder Effect
Turkey
Pedigree
Heterozygote
Hearing Loss
Gene Frequency
Haplotypes
Hearing
Connexin 26
Chromosomes
Confidence Intervals
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Connexin 26 (GJB2) mutations in the Turkish population : Implications for the origin and high frequency of the 35delG mutation in Caucasians. / Tekin, Mustafa; Akar, N.; Cin, Ş; Blanton, Susan H; Xia, X. J.; Liu, Xue Z; Nance, W. E.; Pandya, A.

In: Human Genetics, Vol. 108, No. 5, 11.06.2001, p. 385-389.

Research output: Contribution to journalArticle

@article{20f3649dcbb44fb8a45f2f283756f9a7,
title = "Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians",
abstract = "Mutations in the Connexin 26 (GJB2/Cx26) gene are responsible for more than half of all cases of prelingual non-syndromic recessive deafness in many Caucasian populations. To determine the importance of Cx26 mutations as a cause of deafness in Turks we screened 11 families with prelingual non-syndromic deafness, seven (64{\%}) of which were found to carry the 35delG mutation. We subsequently screened 674 Turkish subjects with no known hearing loss and found twelve 35delG heterozygotes (1.78{\%}; 95{\%} confidence interval: 0.9{\%}-3{\%}) but no examples of the 167delT mutation. To search for possible founder effects, we typed chromosomes carrying the 35delG mutation for closely linked polymorphic markers in samples from Turkey and United States and compared the allele frequencies with those of hearing subjects. The data showed a modest degree of disequilibrium in both populations. Analyses of two pedigrees from Turkey demonstrated both conserved and different haplotypes, suggesting possible founder effects and multiple origins of the 35delG mutation.",
author = "Mustafa Tekin and N. Akar and Ş Cin and Blanton, {Susan H} and Xia, {X. J.} and Liu, {Xue Z} and Nance, {W. E.} and A. Pandya",
year = "2001",
month = "6",
day = "11",
doi = "10.1007/s004390100507",
language = "English",
volume = "108",
pages = "385--389",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "5",

}

TY - JOUR

T1 - Connexin 26 (GJB2) mutations in the Turkish population

T2 - Implications for the origin and high frequency of the 35delG mutation in Caucasians

AU - Tekin, Mustafa

AU - Akar, N.

AU - Cin, Ş

AU - Blanton, Susan H

AU - Xia, X. J.

AU - Liu, Xue Z

AU - Nance, W. E.

AU - Pandya, A.

PY - 2001/6/11

Y1 - 2001/6/11

N2 - Mutations in the Connexin 26 (GJB2/Cx26) gene are responsible for more than half of all cases of prelingual non-syndromic recessive deafness in many Caucasian populations. To determine the importance of Cx26 mutations as a cause of deafness in Turks we screened 11 families with prelingual non-syndromic deafness, seven (64%) of which were found to carry the 35delG mutation. We subsequently screened 674 Turkish subjects with no known hearing loss and found twelve 35delG heterozygotes (1.78%; 95% confidence interval: 0.9%-3%) but no examples of the 167delT mutation. To search for possible founder effects, we typed chromosomes carrying the 35delG mutation for closely linked polymorphic markers in samples from Turkey and United States and compared the allele frequencies with those of hearing subjects. The data showed a modest degree of disequilibrium in both populations. Analyses of two pedigrees from Turkey demonstrated both conserved and different haplotypes, suggesting possible founder effects and multiple origins of the 35delG mutation.

AB - Mutations in the Connexin 26 (GJB2/Cx26) gene are responsible for more than half of all cases of prelingual non-syndromic recessive deafness in many Caucasian populations. To determine the importance of Cx26 mutations as a cause of deafness in Turks we screened 11 families with prelingual non-syndromic deafness, seven (64%) of which were found to carry the 35delG mutation. We subsequently screened 674 Turkish subjects with no known hearing loss and found twelve 35delG heterozygotes (1.78%; 95% confidence interval: 0.9%-3%) but no examples of the 167delT mutation. To search for possible founder effects, we typed chromosomes carrying the 35delG mutation for closely linked polymorphic markers in samples from Turkey and United States and compared the allele frequencies with those of hearing subjects. The data showed a modest degree of disequilibrium in both populations. Analyses of two pedigrees from Turkey demonstrated both conserved and different haplotypes, suggesting possible founder effects and multiple origins of the 35delG mutation.

UR - http://www.scopus.com/inward/record.url?scp=0035000818&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035000818&partnerID=8YFLogxK

U2 - 10.1007/s004390100507

DO - 10.1007/s004390100507

M3 - Article

C2 - 11409864

AN - SCOPUS:0035000818

VL - 108

SP - 385

EP - 389

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 5

ER -