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2012 (Vol. 4, Issue: 2)
Article Information:

Study of Recessive Deafness Locus (DFNB18/USH1C) by Linkage Analysis in Local Population

Rafiullah, Naseebullah Kakar, Muhammad Arif Awan and Jamil Ahmed
Corresponding Author:  Rafiullah 

Key words:  Consanguineous marriages, genetic analysis, pedigree, syndromic deafness, , ,
Vol. 4 , (2): 117-122
Submitted Accepted Published
2011 September, 19 2011 November, 04 2012 March, 10
Abstract:

The objective of this study was to search for known syndromic recessive loci of deafness in local population of Balochistan. Hearing impairment is an extremely heterogeneous disorder that affects about 1 in 2000 newborns. Genetic hearing loss is most often monogenic. Hereditary hearing loss can be classified as syndromic (SHL) or non-syndromic (NSHL). Usher syndrome type IC (USH1C), is an autosomal recessive disorder characterized by profound hearing impairment, early onset of retinitis pigmentosa, and vestibular dysfunction, caused by mutations in USH1C. The USH1C locus mapped to chromosome 11p15.1.During this study, six families were enrolled with at least three affected individuals for linkage analysis studies. The families are collected from different areas of Balochistan province, i.e. Quetta, Sibi, Mastung and Pishin. Detailed history was taken from each family member for confirmation of consanguineous marriages and pedigree drawing. Blood samples from all participants were obtained for genetic analysis by genotyping; haplotype analysis was constructed. Out of six families, results of linkage analysis studies showed that haplotype of family BUITMS-17 were found linked with DFNB18/USH1C locus with D11S902, D11S4138 and D11S921 marker. Gene USH1C/DFNB18 responsible for Harmonin was sequenced and sequencing of all the exons and adjacent splice sites, identified already known homozygous frame shift mutation c238_239insC in affected members of the family BUITMS-17. Our results showed present study is the first report of a family with Usher1C linkage and mutation in Balochistan; further study is needed to explore the mutations and Usher loci prevalent in Balochistan population.
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  Cite this Reference:
Rafiullah, Naseebullah Kakar, Muhammad Arif Awan and Jamil Ahmed, 2012. Study of Recessive Deafness Locus (DFNB18/USH1C) by Linkage Analysis in Local Population.  Current Research Journal of Biological Sciences, 4(2): 117-122.
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ISSN (Online):  2041-0778
ISSN (Print):   2041-076X
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