SCREENING OF AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS FOR GJB2 MUTATIONS

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KHOSHAYEEN A.; POURFATEMI F.; KAHRIZI K.; MOHSENI M.; RIAZ ALHOSSEINI Y.; NIKZAT N.; NAJMABAD H.; BAZAZZADEGAN N.

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Journal: Archives of Rehabilitation (Journal of Rehabilitation) Year:2004 | Volume:5 | Issue:16-17 Page(s): 27-31

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Title

SCREENING OF AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS FOR GJB2 MUTATIONS

Author(s)

Keywords

GJB2Q4

CX26Q4

AUTOSOMAL RECESSIVE NONYNDROMIC HEARING LOSSQ4

Abstract

Introduction: Hereditary Hearing loss (HHL) affects one in 1000 – 2000 new burns and more than 50% of these cases, the loss has a genetic basis. About 70% of HHL is non – syndromic with autosomal recessive forms accounting for ~85% of the genetic load. To date, more than 100 locus estimated for this kind of deafness. Different genes have been reported to be involved, but mutations in the connexin 26 gene (Cx26) have been established the basis of autosomal recessive non-syndromic hearing loss. Materials & Methods: The aim of this project is to study the prevalence of connexin 26 mutations by using Amplification Refractory Mutation System ARMS/PCR for detection of 35 delG and then we analyzed all samples excluding 35 del G homozygote by DHPLC and Direct Sequencing. Finding: We screened 76 chromosomes (38 patient) for GJB2 mutations. Thirty two (42%) carry GJB2 mutations including 35 del G, W24X, R32H, R127H, 3170G>A. Among them, 35 delG has the highest frequency (84%). Polymorphism V153I was found in three chromosomes. Conclusion: According to our results, other loci and genes may be the major responsible for nonsyndromic deafness in this population.

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

KHOSHAYEEN, A., POURFATEMI, F., KAHRIZI, K., MOHSENI, M., RIAZ ALHOSSEINI, Y., NIKZAT, N., NAJMABAD, H., & BAZAZZADEGAN, N.. (2004). SCREENING OF AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS FOR GJB2 MUTATIONS. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), 5(16-17), 27-31. SID. https://sid.ir/paper/43108/en

Vancouver: Copy

KHOSHAYEEN A., POURFATEMI F., KAHRIZI K., MOHSENI M., RIAZ ALHOSSEINI Y., NIKZAT N., NAJMABAD H., BAZAZZADEGAN N.. SCREENING OF AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS FOR GJB2 MUTATIONS. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION)[Internet]. 2004;5(16-17):27-31. Available from: https://sid.ir/paper/43108/en

IEEE: Copy

A. KHOSHAYEEN, F. POURFATEMI, K. KAHRIZI, M. MOHSENI, Y. RIAZ ALHOSSEINI, N. NIKZAT, H. NAJMABAD, and N. BAZAZZADEGAN, “SCREENING OF AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS FOR GJB2 MUTATIONS,” ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), vol. 5, no. 16-17, pp. 27–31, 2004, [Online]. Available: https://sid.ir/paper/43108/en

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