Homozygosity Mapping of Autosomal Recessive Retinitis Pigmentosa Locus (RP22) on Chromosome 16p12.1–p12.3 |
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| Authors: | Ulrich Finckh Suying Xu Govindasamy Kumaramanickavel Manfred Schürmann JK Mukkadan STony Fernandez Sheila John James L Weber Michael J Denton Andreas Gal |
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| Institution: | aInstitut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Butenfeld 42, 22529, Hamburg, Germany;bSankara Nethralaya, Medical Research Foundation, 18 College Road, Chennai, India;cInstitut für Humangenetik, Medizinische Universität, 23538, Lübeck, Germany;;dLittle Flower Medical Research Center, Angamally, Kerala, India;eCenter for Medical Genetics, Marshfield Medical Research Foundation, Marshfield, Wisconsin, 54449;fDepartment of Biochemistry, University of Otago, Box 56, Dunedin, New Zealand |
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| Abstract: | Autosomal recessive retinitis pigmentosa (arRP) is a genetically and clinically heterogeneous and progressive degenerative disorder of the retina, leading usually to severe visual handicap in adulthood. To date, disease loci/genes have been mapped/identified only in a minority of cases. DNA samples were collected from 20 large consanguineous Indian families, in which arRP segregated and that were suitable for homozygosity mapping of the disease locus. After excluding linkage to all known arRP loci, a genome-wide scan was initiated. In two families, homozygosity mapping, haplotype analysis, and linkage data mapped the disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on the proximal short arm of chromosome 16. No mutation has been found by direct sequencing in the gene (CRYM) encoding μ crystallin, which maps in the critical region. |
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