RELATIVE FREQUENCY OF GJB2 GENE MUTATIONS IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) PATIENTS IN LORESTAN POPULATION

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SEPAHVAND M.; KAHRIZI K.; DANESHI A.; RIAZ ALHOSSEINI Y.; MOHSENI MARZIEH; BAZAZZADEGAN N.; NAJMABADI H.

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Journal: Yafteh Year:2006 | Volume:8 | Issue:2 (28) Page(s): 89-95

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Title

RELATIVE FREQUENCY OF GJB2 GENE MUTATIONS IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) PATIENTS IN LORESTAN POPULATION

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Keywords

AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL)Q3

GJB2Q2

35DELGQ3

Abstract

Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromichearing loss.Materials and methods: The aim of this study was to study the frequency ofGJB2 Mutations in Lorestan non-syndromic deaf population by using ARMS/PCR, DHPLC and Direct sequencing.Results: 106 chromosomes from 53 patients were studied. Eighteen chromosomes (17%) carried GJB2 mutations including: 35DELG, 314del14, 512insAACG, - 3170G>A, W24X, V95M, 510insCGAA .The last mutation is a novel GJB2 mutation and 35DELG mutation was diagnosed in 10 chromosomes (9/4%), (4 patients were homozygote and 2 patients were heterozygote). Also polymorphism V153I were found in 3 families. This frequency is significantly higher compared to the whole population of Iran.Conclusion: Unexpectedly, in this research just 17 percent of cases are covered. In this study 510 in sCGAA mutation was seen. This is a new mutation which is not reported in other studied populations in the world. Hence, this research shows that – at least in our studied population- the effect of other genes that could cause nonsyndromic hearing loss is possible and should be studied.

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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

SEPAHVAND, M., KAHRIZI, K., DANESHI, A., RIAZ ALHOSSEINI, Y., MOHSENI, MARZIEH, BAZAZZADEGAN, N., & NAJMABADI, H.. (2006). RELATIVE FREQUENCY OF GJB2 GENE MUTATIONS IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) PATIENTS IN LORESTAN POPULATION. YAFTEH, 8(2 (28)), 89-95. SID. https://sid.ir/paper/80300/en

Vancouver: Copy

SEPAHVAND M., KAHRIZI K., DANESHI A., RIAZ ALHOSSEINI Y., MOHSENI MARZIEH, BAZAZZADEGAN N., NAJMABADI H.. RELATIVE FREQUENCY OF GJB2 GENE MUTATIONS IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) PATIENTS IN LORESTAN POPULATION. YAFTEH[Internet]. 2006;8(2 (28)):89-95. Available from: https://sid.ir/paper/80300/en

IEEE: Copy

M. SEPAHVAND, K. KAHRIZI, A. DANESHI, Y. RIAZ ALHOSSEINI, MARZIEH MOHSENI, N. BAZAZZADEGAN, and H. NAJMABADI, “RELATIVE FREQUENCY OF GJB2 GENE MUTATIONS IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) PATIENTS IN LORESTAN POPULATION,” YAFTEH, vol. 8, no. 2 (28), pp. 89–95, 2006, [Online]. Available: https://sid.ir/paper/80300/en

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