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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
Human Molecular Genetics, Volume 3, No. 6, Year 1994
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Description
Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinopathies, some of which have been shown to result from mutations in two different known retinal genes, rhodopsin (3q) and peripherin-rds (6p). Three additional anonymous loci at 7p, 7q and pericentric 8 have been implicated by linkage studies. There are still, however, a few families in which all known loci have been excluded. In this report we present data indicating a location, on the short arm of chromosome 17, for the autosomal dominant RP (ADRP) locus in a large South African (SA) family of British ancestry. Positive two-point lod scores have 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 θ = 0.10 except D17S804 and D17S926, θ = 0.20). These data provide definitive evidence for the localization of an ADRP gene on chromosome 17p. The human recoverin gene has been localized to 17p13.1 and was consequently a prime candidate for ADRP in the family studied. However, mutation screening of the three exons of this gene failed to produce any evidence of recoverin being the gene involved in the pathogenesis of ADRP in this SA family. © 1994 Oxford University Press.
Authors & Co-Authors
Greenberg, Jacquie L.
South Africa, Cape Town
Faculty of Health Sciences
Goliath, Rene G.
South Africa, Cape Town
Faculty of Health Sciences
Beighton, Peter H.
South Africa, Cape Town
Faculty of Health Sciences
Ramesar, Rajkumar S.
South Africa, Cape Town
Faculty of Health Sciences
Statistics
Citations: 108
Authors: 4
Affiliations: 1
Identifiers
Doi:
10.1093/hmg/3.6.915
ISSN:
09646906
Research Areas
Cancer
Genetics And Genomics
Health System And Policy