GENETIC LINKAGE ANALYSIS OF DFNB93 LOCUS IN A GROUP OF FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN CHAHAR MAHAL & BAKHTIARI AND KOHKILUYEH & BOYER AHMAD PROVINCES OF IRAN

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REZAEIAN F.; TABATABAIEFAR M.A.; HEYBATI F.; REIISI S.; PARCHAMI SH.; ABOLHASANI M.; AMIRI B.; SALEHI A.R.; HASHEMZADEH CHALESHTORI M.

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Journal: Journal of Shahrekord University of Medical Sciences Year:2014 | Volume:16 | Issue:4 Page(s): 62-70

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Title

GENETIC LINKAGE ANALYSIS OF DFNB93 LOCUS IN A GROUP OF FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN CHAHAR MAHAL & BAKHTIARI AND KOHKILUYEH & BOYER AHMAD PROVINCES OF IRAN

Author(s)

Keywords

DFNB93 LOCUSQ2

CABP2 GENEQ2

AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSSQ2

GENETIC LINKAGEQ1

PCR-RFLPQ1

Abstract

Background and aims: Hearing loss (HL) is one of the sensory, neurological disorders and is the highest rate of existing disorder at birth. More than 60% of deafness is hereditary. Genetic type of HL is divided into two groups, syndromic HL (SHL) and Non-syndromic HL (NSHL). Autosomal recessive non syndromic deafness (ARNSHL) occurs with the highest percentage (70%). This study aimed to determine GENETIC LINKAGE of DFNB93 LOCUS in families with ARNSHL.Methods: The descriptive study was performed on 40 large pedigrees with at least two ARNSHL patients. They had healthy parents and most of consanguineous marriage. These cases were negative for GJB2 gene mutation in Chahar Mahal & Bakhtiari and Kohkiluyeh & Boyer Ahmad provinces of Iran. Then families were investigated for GENETIC LINKAGE to the DFNB93 LOCUS using STR markers, PCR and polyacrylamide gels.Results: Results showed that one of the 40 families (2.5%) was linked to the DFNB93 LOCUS.The value of SLINK (2.67), preliminary two-point LOD (2.05), and multipoint LOD (2.05) for this family was calculated.Conclusion: Based on the results of this study, DFNB93 LOCUS has probably little role in deafness of studied population. Further investigations are necessary to determine the role of this locus in deafness in Iranian population more precisely.

Cites

GENETIC LINKAGE ANALYSIS OF DFNB2 LOCUS WITH AUTOSOMAL RECESSIVE HEARING LOSS IN FAMILIES NEGATIVE FOR GJB2 MUTATIONS IN KHUZESTAN PROVINCE

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APA: Copy

REZAEIAN, F., TABATABAIEFAR, M.A., HEYBATI, F., REIISI, S., PARCHAMI, SH., ABOLHASANI, M., AMIRI, B., SALEHI, A.R., & HASHEMZADEH CHALESHTORI, M.. (2014). GENETIC LINKAGE ANALYSIS OF DFNB93 LOCUS IN A GROUP OF FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN CHAHAR MAHAL & BAKHTIARI AND KOHKILUYEH & BOYER AHMAD PROVINCES OF IRAN. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, 16(4), 62-70. SID. https://sid.ir/paper/58777/en

Vancouver: Copy

REZAEIAN F., TABATABAIEFAR M.A., HEYBATI F., REIISI S., PARCHAMI SH., ABOLHASANI M., AMIRI B., SALEHI A.R., HASHEMZADEH CHALESHTORI M.. GENETIC LINKAGE ANALYSIS OF DFNB93 LOCUS IN A GROUP OF FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN CHAHAR MAHAL & BAKHTIARI AND KOHKILUYEH & BOYER AHMAD PROVINCES OF IRAN. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2014;16(4):62-70. Available from: https://sid.ir/paper/58777/en

IEEE: Copy

F. REZAEIAN, M.A. TABATABAIEFAR, F. HEYBATI, S. REIISI, SH. PARCHAMI, M. ABOLHASANI, B. AMIRI, A.R. SALEHI, and M. HASHEMZADEH CHALESHTORI, “GENETIC LINKAGE ANALYSIS OF DFNB93 LOCUS IN A GROUP OF FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN CHAHAR MAHAL & BAKHTIARI AND KOHKILUYEH & BOYER AHMAD PROVINCES OF IRAN,” JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, vol. 16, no. 4, pp. 62–70, 2014, [Online]. Available: https://sid.ir/paper/58777/en

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