Did the GJB2 35delG mutation originate in Iran?

Vahideh Norouzi; Hiva Azizi; Zohreh Fattahi; Fatemehsadat Esteghamat; Niloofar Bazazzadegan; Carla Nishimura; Nooshin Nikzat; Khadijeh Jalalvand; Kimia Kahrizi; Richard J H Smith; Hossein Najmabadi

doi:10.1002/ajmg.a.34225

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Did the GJB2 35delG mutation originate in Iran?

Journal article

Peer reviewed

Did the GJB2 35delG mutation originate in Iran?

Vahideh Norouzi, Hiva Azizi, Zohreh Fattahi, Fatemehsadat Esteghamat, Niloofar Bazazzadegan, Carla Nishimura, Nooshin Nikzat, Khadijeh Jalalvand, Kimia Kahrizi, Richard J H Smith, …

American journal of medical genetics. Part A, Vol.155A(10), pp.2453-2458

10/2011

DOI: 10.1002/ajmg.a.34225

PMCID: PMC4432473

PMID: 21910243

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Abstract

Mutations in GJB2 are a major cause of autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. A single mutation of this gene (35delG) accounts for approximately 70% of GJB2 mutations that are associated with ARNSHL in Caucasians in many European countries and also in Iranian. In this study, we used PCR and restriction digestion to genotype five single nucleotide polymorphisms (SNPs) that define the genetic background of the 35delG mutation over an interval of 98 Kbp that includes the coding and flanking regions of GJB2. Two microsatellite markers, D13S175 and D13S141, were also analyzed in patients and controls. These data suggest that the 35delG mutation originated in northern Iran.

Genetics, Population

History, Ancient

Emigration and Immigration - history

Hearing Loss - ethnology

Genes, Recessive - genetics

Humans

Connexins - genetics

Male

Microsatellite Repeats - genetics

Connexin 26

Hearing Loss - genetics

Polymorphism, Single Nucleotide - genetics

Female

Iran - epidemiology

Sequence Deletion - genetics

Details

Title: Subtitle: Did the GJB2 35delG mutation originate in Iran?
Creators: Vahideh Norouzi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Hiva Azizi
Zohreh Fattahi
Fatemehsadat Esteghamat
Niloofar Bazazzadegan
Carla Nishimura
Nooshin Nikzat
Khadijeh Jalalvand
Kimia Kahrizi
Richard J H Smith
Hossein Najmabadi
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.155A(10), pp.2453-2458
DOI: 10.1002/ajmg.a.34225
PMID: 21910243
PMCID: PMC4432473
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Grant note: R01 DC003544 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS R01 DCO3544 / PHS HHS R01 DCOO2842 / PHS HHS
Language: English
Date published: 10/2011
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006430602771

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