Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians

Denise Yan, Hong Joon Park, Xiao Mei Ouyang, Arti Pandya, Katsumi Doi, Raadnabazar Erdenetungalag, Li Lin Du, Naoki Matsushiro, Walter E. Nance, Andrew J. Griffith, Xue Z Liu

Research output: Contribution to journalArticle

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Abstract

Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal recessive and sporadic cases of congenital deafness in most populations. The 235delC mutation of GJB2 is the most frequent known mutation in some east Asian populations, with a carrier frequency of approximately 1%. In order to study the origin of 235delC among east Asians, we analyzed single-nucleotide polymorphisms (SNPs) within the coding region of GJB2 and flanking the 235delC mutation. We observed significant linkage disequilibrium between 235delC and five linked polymorphic markers, suggesting that 235delC arose from a common founder. The detection of 235delC only in east Asians, but not in Caucasians, and the small chromosomal interval of the shared haplotype suggest that 235delC is an ancient mutation that arose after the divergence of Mongoloids and Caucasians. Similarly, the finding that this mutation appears on a single haplotype provides no support for the possibility that recurrent mutation is the explanation for the high frequency of the allele.

Original languageEnglish
Pages (from-to)44-50
Number of pages7
JournalHuman Genetics
Volume114
Issue number1
DOIs
StatePublished - Dec 1 2003

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Founder Effect
Mutation
Haplotypes
Linkage Disequilibrium
Deafness
Connexin 26
Gene Frequency
Population
Single Nucleotide Polymorphism

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. / Yan, Denise; Park, Hong Joon; Ouyang, Xiao Mei; Pandya, Arti; Doi, Katsumi; Erdenetungalag, Raadnabazar; Du, Li Lin; Matsushiro, Naoki; Nance, Walter E.; Griffith, Andrew J.; Liu, Xue Z.

In: Human Genetics, Vol. 114, No. 1, 01.12.2003, p. 44-50.

Research output: Contribution to journalArticle

Yan, D, Park, HJ, Ouyang, XM, Pandya, A, Doi, K, Erdenetungalag, R, Du, LL, Matsushiro, N, Nance, WE, Griffith, AJ & Liu, XZ 2003, 'Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians', Human Genetics, vol. 114, no. 1, pp. 44-50. https://doi.org/10.1007/s00439-003-1018-1
Yan, Denise ; Park, Hong Joon ; Ouyang, Xiao Mei ; Pandya, Arti ; Doi, Katsumi ; Erdenetungalag, Raadnabazar ; Du, Li Lin ; Matsushiro, Naoki ; Nance, Walter E. ; Griffith, Andrew J. ; Liu, Xue Z. / Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. In: Human Genetics. 2003 ; Vol. 114, No. 1. pp. 44-50.
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