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.
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Acknowledgements
We thank the family members for their invaluable participation and cooperation. This study was funded by Higher Education Commission (HEC), Government of Pakistan and the NIH-National Institute of Deafness and other Communication Disorders grant DC03594. Genotyping services were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, Contract Number N01-HG-65403.
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Chishti, M., Lee, K., McDonald, ML. et al. Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22–21.3. J Hum Genet 54, 141–144 (2009). https://doi.org/10.1038/jhg.2009.2
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DOI: https://doi.org/10.1038/jhg.2009.2
