PREVALENCE OF GJB2 MUTATIONS AMONG PATIENTS WITH AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING LOSS IN SISTAN AND BALOOCHESTAN PROVINCE

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NAGHAVI A.; NISHIMURA C.; KAHRIZI K.; RIAZ ALHOSSEINI Y.; SURAKI ALIABADI H.; MAHDIEH N.; SMITH RICHARD J.H.; NAJMABAD H.

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Journal: Zahedan Journal of Research in Medical Sciences Year:2005 | Volume:7 | Issue:2 Page(s): 85-92

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Title

PREVALENCE OF GJB2 MUTATIONS AMONG PATIENTS WITH AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING LOSS IN SISTAN AND BALOOCHESTAN PROVINCE

Author(s)

Keywords

DEAFNESSQ2

GJB2Q4

DHPLCQ3

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.

Cites

ANALYSIS OF COMMON MUTATIONS IN GJB2 AND GJB6 GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN EASTERN AZARBAIJAN

References

RELATIVE FREQUENCY OF 35DELG MUTATION IN GJB2 GENE IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) PATIENTS IN KERMAN POPULATION

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APA: Copy

NAGHAVI, A., NISHIMURA, C., KAHRIZI, K., RIAZ ALHOSSEINI, Y., SURAKI ALIABADI, H., MAHDIEH, N., SMITH RICHARD, J.H., & NAJMABAD, H.. (2005). PREVALENCE OF GJB2 MUTATIONS AMONG PATIENTS WITH AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING LOSS IN SISTAN AND BALOOCHESTAN PROVINCE. ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH), 7(2), 85-92. SID. https://sid.ir/paper/84201/en

Vancouver: Copy

NAGHAVI A., NISHIMURA C., KAHRIZI K., RIAZ ALHOSSEINI Y., SURAKI ALIABADI H., MAHDIEH N., SMITH RICHARD J.H., NAJMABAD H.. PREVALENCE OF GJB2 MUTATIONS AMONG PATIENTS WITH AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING LOSS IN SISTAN AND BALOOCHESTAN PROVINCE. ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH)[Internet]. 2005;7(2):85-92. Available from: https://sid.ir/paper/84201/en

IEEE: Copy

A. NAGHAVI, C. NISHIMURA, K. KAHRIZI, Y. RIAZ ALHOSSEINI, H. SURAKI ALIABADI, N. MAHDIEH, J.H. SMITH RICHARD, and H. NAJMABAD, “PREVALENCE OF GJB2 MUTATIONS AMONG PATIENTS WITH AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING LOSS IN SISTAN AND BALOOCHESTAN PROVINCE,” ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH), vol. 7, no. 2, pp. 85–92, 2005, [Online]. Available: https://sid.ir/paper/84201/en

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