Genetic linkage analysis of the DFNB48 and DFNB98 loci in families with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) from Khouzestan province

Taghipour-Sheshdeh, Afsaneh. and Tabatabaiefar, Mohammad Amin. and Nemati-Zargaran, Fatemeh. and Moradi, Fahimeh. and Zarepour, Narges. and Hashemzadeh-Chaleshtori, Morteza. (2016) Genetic linkage analysis of the DFNB48 and DFNB98 loci in families with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) from Khouzestan province. journal of shahrekord university of medical sciences, 18 (6).

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Abstract

Background and aims: Hearing loss, a sensorineural disorder, is one of the most common congenital impairments, occurring in approximately 1 in 500 newborns. Hearing loss is a highly heterogenic disease and half of the cases of deafness are attributed to genetic causes; environmental and unknown factors account for the remainder. Non-syndromic type forms 70% of hearing loss cases. Pattern of inheritance of nearly 80% of this type of HL is recessive autosomal. Iranian population provides a valuable genetic resource to study this kind of HL because of high ratio of consanguinity. In this study, genetic linkage of DFNB48 (CIB2) and DFNB98 (TSPEAR) is investigated in families with ARNSHL impairment from Khouzestan province. Methods: In this descriptive study 300 individuals of 25 families with hearing loss were examined in order to determine type and frequency of mutation of DFNB48 and DFNB98 loci in Khouzestan province. Families' selection had some criteria. Families with healthy parents, consanguineous marriage and negative result for mutations of GJB2 gene with at least two affected individuals were selected. 3 families which were detected positive for mutations of GJB2 gene were excluded from study. Linkage analysis was done for 22 families by using six STR markers which were located in or were tightly linked to each locus. Results: None of these families inspected by linkage analysis was linked to the DFNB48 or DFNB98 loci. Conclusion: Considering these results it seems that CIB2 and TSPEAR genes mutations have not important roles in hearing loss in Khouzestan province.

Item Type: Article
Uncontrolled Keywords: DFNB48 locus, DFNB98 locus, ARNSHL, Linkage analysis.
Subjects: QU Biochemistry > Cell biology and genetics
WV Otolaryngology
Divisions: Faculty of Medicine > Basic Sciences Academic Groups > Department of Biochemistry and Genetics
Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Reserach Vice-Chancellar Department > Journal of Shahrekord University of Medical Sciences
Depositing User: Users 1 not found.
Date Deposited: 16 Sep 2017 05:24
Last Modified: 28 Mar 2018 05:39
URI: http://eprints.skums.ac.ir/id/eprint/4972

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