Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.

M. Simsek, N. Al-Wardy, A. Al-Khayat, M. Shanmugakonar, T. Al-Bulushi, M. Al-Khabory, S. Al-Mujeni, S. Al-Harthi

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

We have investigated the prevalence of mutations in the connexin 26 (GJB2) gene in Omani population using both PCR-RFLP and direct DNA sequencing methods. Two common GJB2 gene mutations (35delG and 167delT) were screened in 280 healthy controls and 95 deaf patients using two different PCR-RFLP methods. To investigate other GJB2 mutations, we have amplified and sequenced DNA from 51 unrelated deaf patients and 17 control subjects. None of the samples studied, either by RFLP or sequencing, revealed any deafness-associated mutations in the coding region of the GJB2 gene. These findings disagree with many reports on the GJB2 gene, describing various mutations as the cause of congenital recessive deafness. Although, an amino acid substitution (S86T) was identified by sequencing, we conclude that this change could not be associated with deafness since it was present in all the control and patient samples sequenced.

Original languageEnglish
Pages (from-to)545-546
Number of pages2
JournalHuman Mutation
Volume18
Issue number6
Publication statusPublished - Dec 2001

Fingerprint

Deafness
Mutation
Restriction Fragment Length Polymorphisms
Population
Genes
Polymerase Chain Reaction
Amino Acid Substitution
DNA Sequence Analysis
Connexin 26
DNA

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Simsek, M., Al-Wardy, N., Al-Khayat, A., Shanmugakonar, M., Al-Bulushi, T., Al-Khabory, M., ... Al-Harthi, S. (2001). Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Human Mutation, 18(6), 545-546.

Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. / Simsek, M.; Al-Wardy, N.; Al-Khayat, A.; Shanmugakonar, M.; Al-Bulushi, T.; Al-Khabory, M.; Al-Mujeni, S.; Al-Harthi, S.

In: Human Mutation, Vol. 18, No. 6, 12.2001, p. 545-546.

Research output: Contribution to journalArticle

Simsek, M, Al-Wardy, N, Al-Khayat, A, Shanmugakonar, M, Al-Bulushi, T, Al-Khabory, M, Al-Mujeni, S & Al-Harthi, S 2001, 'Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.', Human Mutation, vol. 18, no. 6, pp. 545-546.
Simsek M, Al-Wardy N, Al-Khayat A, Shanmugakonar M, Al-Bulushi T, Al-Khabory M et al. Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Human Mutation. 2001 Dec;18(6):545-546.
Simsek, M. ; Al-Wardy, N. ; Al-Khayat, A. ; Shanmugakonar, M. ; Al-Bulushi, T. ; Al-Khabory, M. ; Al-Mujeni, S. ; Al-Harthi, S. / Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. In: Human Mutation. 2001 ; Vol. 18, No. 6. pp. 545-546.
@article{04dd1fbc7bec4864a4fcfc680cc2e8de,
title = "Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.",
abstract = "We have investigated the prevalence of mutations in the connexin 26 (GJB2) gene in Omani population using both PCR-RFLP and direct DNA sequencing methods. Two common GJB2 gene mutations (35delG and 167delT) were screened in 280 healthy controls and 95 deaf patients using two different PCR-RFLP methods. To investigate other GJB2 mutations, we have amplified and sequenced DNA from 51 unrelated deaf patients and 17 control subjects. None of the samples studied, either by RFLP or sequencing, revealed any deafness-associated mutations in the coding region of the GJB2 gene. These findings disagree with many reports on the GJB2 gene, describing various mutations as the cause of congenital recessive deafness. Although, an amino acid substitution (S86T) was identified by sequencing, we conclude that this change could not be associated with deafness since it was present in all the control and patient samples sequenced.",
author = "M. Simsek and N. Al-Wardy and A. Al-Khayat and M. Shanmugakonar and T. Al-Bulushi and M. Al-Khabory and S. Al-Mujeni and S. Al-Harthi",
year = "2001",
month = "12",
language = "English",
volume = "18",
pages = "545--546",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "6",

}

TY - JOUR

T1 - Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.

AU - Simsek, M.

AU - Al-Wardy, N.

AU - Al-Khayat, A.

AU - Shanmugakonar, M.

AU - Al-Bulushi, T.

AU - Al-Khabory, M.

AU - Al-Mujeni, S.

AU - Al-Harthi, S.

PY - 2001/12

Y1 - 2001/12

N2 - We have investigated the prevalence of mutations in the connexin 26 (GJB2) gene in Omani population using both PCR-RFLP and direct DNA sequencing methods. Two common GJB2 gene mutations (35delG and 167delT) were screened in 280 healthy controls and 95 deaf patients using two different PCR-RFLP methods. To investigate other GJB2 mutations, we have amplified and sequenced DNA from 51 unrelated deaf patients and 17 control subjects. None of the samples studied, either by RFLP or sequencing, revealed any deafness-associated mutations in the coding region of the GJB2 gene. These findings disagree with many reports on the GJB2 gene, describing various mutations as the cause of congenital recessive deafness. Although, an amino acid substitution (S86T) was identified by sequencing, we conclude that this change could not be associated with deafness since it was present in all the control and patient samples sequenced.

AB - We have investigated the prevalence of mutations in the connexin 26 (GJB2) gene in Omani population using both PCR-RFLP and direct DNA sequencing methods. Two common GJB2 gene mutations (35delG and 167delT) were screened in 280 healthy controls and 95 deaf patients using two different PCR-RFLP methods. To investigate other GJB2 mutations, we have amplified and sequenced DNA from 51 unrelated deaf patients and 17 control subjects. None of the samples studied, either by RFLP or sequencing, revealed any deafness-associated mutations in the coding region of the GJB2 gene. These findings disagree with many reports on the GJB2 gene, describing various mutations as the cause of congenital recessive deafness. Although, an amino acid substitution (S86T) was identified by sequencing, we conclude that this change could not be associated with deafness since it was present in all the control and patient samples sequenced.

UR - http://www.scopus.com/inward/record.url?scp=0035650583&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035650583&partnerID=8YFLogxK

M3 - Article

VL - 18

SP - 545

EP - 546

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 6

ER -