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  • Title: Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus.
    Author: Bradley DG, Farrar GJ, Sharp EM, Kenna P, Humphries MM, McConnell DJ, Daiger SP, McWilliam P, Humphries P.
    Journal: Am J Hum Genet; 1989 Apr; 44(4):570-6. PubMed ID: 2564733.
    Abstract:
    Members of a large Irish pedigree exhibiting early-onset autosomal dominant retinitis pigmentosa (ADRP) were typed for the rhesus blood group and nine DNA markers on chromosome 1. Close linkage between the ADRP locus and any of the marker loci was excluded using two-point analysis. With use of the sex-averaged maps of Dracopoli et al. and Donis-Keller et al. and a strategy of rolling multipoint analyses, support was gained for the exclusion of ADRP from a 224-cM region of the chromosome, including almost the entire short arm. The disease locus was significantly excluded from within at least 50 cM of the rhesus locus and, as a loose linkage between these two genes has been suggested by other studies, this result may support the possibility of genetic heterogeneity within the autosomal dominant subgroup of retinitis pigmentosa.
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