THE CONTRIBUTION OF AUTOSOMAUL RECESSIVE NON-SYNDROMIC DEAFNESS TO DFNB59 MUTATIONS (PEJVAKIN)

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ABOU ALHASANI MARZIEH; FAROKHI EFAT; NOUR BAKHSH M.; TAHERZADEH MARYAM; AZADEGAN F.; ASGARI AZAM; HASHEMZADEH M.

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Journal: Zahedan Journal of Research in Medical Sciences Year:2010 | Volume:12 | Issue:3 Page(s): 19-23

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Title

THE CONTRIBUTION OF AUTOSOMAUL RECESSIVE NON-SYNDROMIC DEAFNESS TO DFNB59 MUTATIONS (PEJVAKIN)

Author(s)

Keywords

PCR-SSCPQ2

HETERODUPLEX ANALYSISQ3

PEJVAKINQ3

DEAFNESSQ3

Abstract

Background: Hearing loss is a common disorder affecting millions of individuals worldwide with opproximately 1 in 1000 newborns. A novel gene, DFNB59 encods PEJVAKIN has been recently shown to cause neural DEAFNESS. The aim of this study was to determine the frequency of DFNB59 gene mutations in 93 deaf pupils in Sistan & Baluchestan province.Materials and Method: We investigated the frequency of DFNB59 gene mutations in the coding regions (exons 2-7) of the gene. DNA was extracted following the standard phenol chloroform procedure, the frequency of DFNB59 gene mutations was investigated using PCR-SSCP /HA strategy.Results: No pathogenic variant was detected in samples studied. However, one polymorphism including 793C>G was determined in 3 of 93 (3.2%) subject examined.Conclusion: The results of this study showed no association between DFNB59 gene mutations and hearing loss in Sistan va Baluchestan province.

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APA: Copy

ABOU ALHASANI, MARZIEH, FAROKHI, EFAT, NOUR BAKHSH, M., TAHERZADEH, MARYAM, AZADEGAN, F., ASGARI, AZAM, & HASHEMZADEH, M.. (2010). THE CONTRIBUTION OF AUTOSOMAUL RECESSIVE NON-SYNDROMIC DEAFNESS TO DFNB59 MUTATIONS (PEJVAKIN). ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH), 12(3), 19-23. SID. https://sid.ir/paper/84380/en

Vancouver: Copy

ABOU ALHASANI MARZIEH, FAROKHI EFAT, NOUR BAKHSH M., TAHERZADEH MARYAM, AZADEGAN F., ASGARI AZAM, HASHEMZADEH M.. THE CONTRIBUTION OF AUTOSOMAUL RECESSIVE NON-SYNDROMIC DEAFNESS TO DFNB59 MUTATIONS (PEJVAKIN). ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH)[Internet]. 2010;12(3):19-23. Available from: https://sid.ir/paper/84380/en

IEEE: Copy

MARZIEH ABOU ALHASANI, EFAT FAROKHI, M. NOUR BAKHSH, MARYAM TAHERZADEH, F. AZADEGAN, AZAM ASGARI, and M. HASHEMZADEH, “THE CONTRIBUTION OF AUTOSOMAUL RECESSIVE NON-SYNDROMIC DEAFNESS TO DFNB59 MUTATIONS (PEJVAKIN),” ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH), vol. 12, no. 3, pp. 19–23, 2010, [Online]. Available: https://sid.ir/paper/84380/en

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