Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province

Anoosh Naghavi; K Nishimura; K Kahrizi; Y Riazalhosseini; H Suraki Aliabadib; N Mahdieh; J Smith Richard; h najm ABADI

Zahedan Journal of Research in Medical Sciences

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Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province

Author(s):

Anoosh Naghavi¹,

K Nishimura²,

K Kahrizi³,

Y Riazalhosseini⁴,

H Suraki Aliabadib⁵,

N Mahdieh³,

J Smith Richard²,

h najm ABADI^4,*

1Microbiology Dept, Faculty of Medicine, Zahedan University of Medical Sciences and health services, Zahedan, Iran.

2Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA.

3Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

4Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

5General Physician.

Zahedan Journal of Research in Medical Sciences:Vol. 7, issue 2; e94965

Published online:Jun 29, 2019

Article type:Research Article

Received:Jan 27, 2004

Accepted:Jun 28, 2005

How to Cite:Anoosh NaghaviK NishimuraK KahriziY RiazalhosseiniH Suraki AliabadibN MahdiehJ Smith Richardh najm ABADIet al.Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province.Zahedan J Res Med Sci.7(2):e94965.

Abstract

Background: Hereditary hearing impairment is a heterogeneous disability showing different
pattern of inheritance and involving a multitude of different genes. Mutations in the GJB2 gene,
especially the 35delG mutation, have been established as a major cause of inherited and sporadic
non-syndromic deafness in various ethnic groups. Because population-specific differences are not
uncommon, in this study we sought to determine the prevalence and spectrum of GJB2 mutations in
two isolated ethnic groups of Balooch and Sistani in southeastern Iran.
Methods and Materials: In this study in 2004 2005 we analyzed one hundred families belonging to
the Balooch and Sistani populations suffering from autosomal recessive non-syndromic hearing
impairment. Mutation screening of GJB2 was performed by an allele-specific PCR assay to detect
the 35delG mutation. The negative or heterozygous cases for the 35delG mutation were screened by
denaturing high performance liquid chromatography (DHPLC) and sequencing analysis.
Results: 35delG mutation which is the most common GJB2 mutation in the white population as
well as other parts of Iran was not found in any of the patients. We identified GJB2 mutant alleles
in 18 chromosomes (9%) including R127H, K122I, W24X, 167delT and M93I. Among them W24X
had the highest frequency.
Conclusions: Based on these data, the hot-spot mutations in the GJB2 gene in the Balooch
population with non-syndromic hearing loss may be different from other ethnic groups in Iran.

Keywords

Deafness

GJB2

DHPLC

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References

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