A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3 |
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| Authors: | Muhammad Jawad Hassan Regie Lyn P Santos Muhammad Arshad Rafiq Maria H Chahrour Thanh L Pham Muhammad Wajid Nadine Hijab Michael Wambangco Kwanghyuk Lee Muhammad Ansar Kai Yan Wasim Ahmad Suzanne M Leal |
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| Institution: | (1) Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan;(2) Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek Building N1619.01, Houston, TX 77030, USA;(3) Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan |
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| Abstract: | Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. Autosomal recessive (AR) forms of prelingual
HI account for ~75% of cases with a genetic etiology. A novel AR non-syndromic HI locus (DFNB47) was mapped to chromosome 2p25.1-p24.3, in two distantly related Pakistani kindreds. Genome scan and fine mapping were carried
out using microsatellite markers. Multipoint linkage analysis resulted in a maximum LOD score of 4.7 at markers D2S1400 and
D2S262. The three-unit support interval was bounded by D2S330 and D2S131. The region of homozygosity was found within the
three-unit support interval and flanked by markers D2S2952 and D2S131, which corresponds to 13.2 cM according to the Rutgers
combined linkage-physical map. This region contains 5.3 Mb according to the sequence-based physical map. Three candidate genes,
KCNF1, ID2 and ATP6V1C2 were sequenced, and were found to be negative for functional sequence variants. |
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