GENETIC LINKAGE ANALYSIS OF DFNB59 LOCI INVOLVED IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) IN 3 WESTERN PROVINCES OF IRAN

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FATTAHI N.; TABATABAIE FAR M.A.; REIISI S.; ALIPOUR P.; POURAHMADIAN A.; HASHEMZADEH CHALESHTORI M.

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Journal: Journal of Shahrekord University of Medical Sciences Year:2015 | Volume:17 | Issue:4 Page(s): 39-46

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Title

GENETIC LINKAGE ANALYSIS OF DFNB59 LOCI INVOLVED IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) IN 3 WESTERN PROVINCES OF IRAN

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Keywords

DFNB59 LOCUSQ2

PJVK GENEQ2

AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSSQ2

GENETIC LINKAGEQ2

Abstract

Background and aims: Bilateral sensorineural hearing loss is one of the most frequent congenital defects, and it has the prevalence of one in thousand among the infants. ARSNHL is a very heterogenic defect for over 70 loci and 50 genes have been found. In the present study, screening of DFNB59 loci performed with aim of determineing the contribution of this locus in Hamedan, Kohgiluyeh and Boyer Ahmad and Chaharmahal and Bakhtiari provinces.Methods: In this laboratory descriptive study, DFNB59 mutations in 54 families from 3 provinces of Iran including Hamedan, Kohgiluyeh and Boyer Ahmad, and Chaharmahal and Bakhtiari were studied. The gene (PJVK) in this locus encodes Pejvakin protein (PJVK) and causes tranafer nerve stimulation. Selected families in this study had consanguinity and they had at least 2 patients with the defect. They also were negative in having the GJB2 mutations.6 STR markers were selected for these loci. By PCR amplification, electrophoresis on polyacrylamide gel was done and linkage analysis was performed.Results: After examining different families, it was revealed that none of them had linkage to the DFNB59 LOCUS. Therefore, this study shows that Pejvakin mutations do not play an important role in causing HL in these provinces.Conclusion: According to the present study, it suggests that Pejvakin mutations might not play an important role in appearance of bilateral sensorineural hearing loss in these provinces including Hamedan, Kohgiluyeh and Boyer Ahmad and Chaharmahal and Bakhtiari.

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APA: Copy

FATTAHI, N., TABATABAIE FAR, M.A., REIISI, S., ALIPOUR, P., POURAHMADIAN, A., & HASHEMZADEH CHALESHTORI, M.. (2015). GENETIC LINKAGE ANALYSIS OF DFNB59 LOCI INVOLVED IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) IN 3 WESTERN PROVINCES OF IRAN. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, 17(4), 39-46. SID. https://sid.ir/paper/58548/en

Vancouver: Copy

FATTAHI N., TABATABAIE FAR M.A., REIISI S., ALIPOUR P., POURAHMADIAN A., HASHEMZADEH CHALESHTORI M.. GENETIC LINKAGE ANALYSIS OF DFNB59 LOCI INVOLVED IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) IN 3 WESTERN PROVINCES OF IRAN. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2015;17(4):39-46. Available from: https://sid.ir/paper/58548/en

IEEE: Copy

N. FATTAHI, M.A. TABATABAIE FAR, S. REIISI, P. ALIPOUR, A. POURAHMADIAN, and M. HASHEMZADEH CHALESHTORI, “GENETIC LINKAGE ANALYSIS OF DFNB59 LOCI INVOLVED IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) IN 3 WESTERN PROVINCES OF IRAN,” JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, vol. 17, no. 4, pp. 39–46, 2015, [Online]. Available: https://sid.ir/paper/58548/en

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