A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17 |
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Authors: | Greenberg, Jacquie Goliath, Rene Beighton, Peter Ramesar, Rajkumar |
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Affiliation: | MRC Research Unit for Medical Genetics, Department of Human Genetics, University of Cape Town Medical School Observatory 7925, South Africa |
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Abstract: | Retinitis pigmentosa (RP) is a group of genetically and clinicallyheterogeneous retinopathies, some of which have been shown toresult from mutations in two different known retinal genes,rhodopsin (3q) and peripherin-rds (6p). Three additional anonymousloci at 7p, 7q and pericentric 8 have been implicated by linkagestudies. There are still, however, a few families in which allknown loci have been excluded. In this report we present dataindicating a location, on the short arm of chromosome 17, forthe autosomal dominant RP (ADRP) locus in a large South African(SA) family of British ancestry. Positive two-point lod scoreshave been obtained for nine markers (D17S938, Z = 5.43; D17S796,Z = 4.82; D17S849, Z = 3.6; D17S786, Z = 3.55; TP53, Z = 3.55;D17S578, Z = 3.29; D17S960, Z = 3.16; D17S926, Z = 1.51; D17S804,Z = 0.47 all at |
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