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

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TAHMASEBI PARISA; KAZEMI NEZHAD SEYED REZA; TABATABAIEFAR MOHAMMAD AMIN; MOHAMMADI ASL JAVAD; SAKI NADER

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Journal: Journal of Arak University Medical Sciences Year:2016 | Volume:19 | Issue:6 (111) Page(s): 68-77

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Title

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

Author(s)

Keywords

AUTOSOMAL RECESSIVE HEARING LOSSQ1

DFNB2 LOCUSQ1

GENETIC LINKAGEQ1

Abstract

Background: Hearing loss is a common sensory impairment in humans which half of its causes are genetic reasons. Genetic hearing loss can be divided into the two types of syndromic and non-syndromic, which 80% of non-syndromic cases is Autosomal Recessive Non-Syndromic Hearing Loss. The aim of the present research is to determine the contribution of DFNB2 LOCUS (MYO7A gene)in causing an AUTOSOMAL RECESSIVE HEARING LOSS in the one group of the deaf families of Khuzestan province.Materials and Methods: This study was conducted on 26 families with autosomal recessivehearing loss (with 4 patients) and negative for GJB2 mutations in Khuzestan province.22 families suffered from ARNSHL and 4 families suffered from Usher syndrome. Linkage analysis was performed by using STR (Short Tandem Repeat) markers related to DFNB2 LOCUS. Each family’s genotype was determined by PCR-PAGE method. Furthermore, haplotypes drawing and LOD scorecalculations were performed.Results: From 26 families with hearing loss participating in this research, following geneticlinkage analysis and haplotypes drawing, two families (7.7% of the families) showed linkage toDFNB2 locus. One family (4.5%) suffered from ARNSHL and another family suffered from Ushersyndrome.Conclusion: The results of the present research show that the contribution of DFNB2 LOCUS incausing hearing loss in the population of Khuzestan province was similar to other studies conducted in Iran and this locus with other important loci should be considered to check in the hearing loss panel.

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References

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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APA: Copy

TAHMASEBI, PARISA, KAZEMI NEZHAD, SEYED REZA, TABATABAIEFAR, MOHAMMAD AMIN, MOHAMMADI ASL, JAVAD, & SAKI, NADER. (2016). GENETIC LINKAGE ANALYSIS OF DFNB2 LOCUS WITH AUTOSOMAL RECESSIVE HEARING LOSS IN FAMILIES NEGATIVE FOR GJB2 MUTATIONS IN KHUZESTAN PROVINCE. ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ), 19(6 (111)), 68-77. SID. https://sid.ir/paper/69917/en

Vancouver: Copy

TAHMASEBI PARISA, KAZEMI NEZHAD SEYED REZA, TABATABAIEFAR MOHAMMAD AMIN, MOHAMMADI ASL JAVAD, SAKI NADER. GENETIC LINKAGE ANALYSIS OF DFNB2 LOCUS WITH AUTOSOMAL RECESSIVE HEARING LOSS IN FAMILIES NEGATIVE FOR GJB2 MUTATIONS IN KHUZESTAN PROVINCE. ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ)[Internet]. 2016;19(6 (111)):68-77. Available from: https://sid.ir/paper/69917/en

IEEE: Copy

PARISA TAHMASEBI, SEYED REZA KAZEMI NEZHAD, MOHAMMAD AMIN TABATABAIEFAR, JAVAD MOHAMMADI ASL, and NADER SAKI, “GENETIC LINKAGE ANALYSIS OF DFNB2 LOCUS WITH AUTOSOMAL RECESSIVE HEARING LOSS IN FAMILIES NEGATIVE FOR GJB2 MUTATIONS IN KHUZESTAN PROVINCE,” ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ), vol. 19, no. 6 (111), pp. 68–77, 2016, [Online]. Available: https://sid.ir/paper/69917/en

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