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. 2009 Mar;54(3):141-4.
doi: 10.1038/jhg.2009.2. Epub 2009 Feb 20.

Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB71) Maps to Chromosome 8p22-21.3

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Free PMC article

Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB71) Maps to Chromosome 8p22-21.3

Muhammad Salman Chishti et al. J Hum Genet. .
Free PMC article

Abstract

A novel ARNSHI (autosomal recessive non-syndromic hearing impairment) locus, DFNB71, was localized to 8p22-21.3. To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI. A maximum multipoint LOD score of 4.2 occurred at marker D8S261. The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786. This region has a genetic distance of 19.1 cM and contains 10.6 Mb of sequence.

Figures

Figure 1
Figure 1
Drawing of pedigree 4216. Black symbols represent individuals with hearing impairment and clear symbols represent unaffected individuals. Haplotypes are shown beneath each genotyped individual. The DFNB71 haplotype is enclosed in a rectangle.
Figure 2
Figure 2
Audiograms for a hearing impaired (panel a) and unimpaired family member (panel b) from pedigree 4216. Circles and crosses represent air conduction for the right and left ear, respectively. Panel (a) displays the audiogram for individual 34 at 24 years of age and panel (b) displays the audiogram from individual 38 at 17 years of age.

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