Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3

Abstract

Linkage analysis has been performed on a large Australian family segregating for the autosomal dominant form of retinitis pigmentosa (ADRP). The majority of patients had no subjective symptoms of night blindness until their second decade and good visual acuity until late in life. The disease in this family has been classified as Type II ADRP according to the subdivisions provided by both Massof and Finkelstein and Fishman and colleagues. Linkage (Omax:0.08 at Zmax:4.78) is here demonstrated between the disease locus and D3S47 (a marker locus on the long arm of chromosome 3), which showed in an earlier study very close linkage without recombination to the disease locus in an Irish pedigree with a clinically more severe and early onset (Type I) ADRP.

No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families

“…1) and from data in previous reports (McWilliams et al 1989;Inglehearn et al 1990;Olsson et al 1990) that there is not complete linkage disequilibrium between the allelic systems. To maximise the polymorphic information content for linkage analysis purposes, the different alleles of the 2 di-allelic systems have been combined into haplotypes shown as CID2, C2D1, C2D2, AID2, A2D1 and A2D2 in pedigrees D and T in Fig.…”

“…Inglehearn et al (1990) studied a multigeneration English pedigree and found no evidence of linkage between the ADRP gene and D3S47. Moreover, Olsson et al (1990) Here we report a linkage analysis between the ADRP locus and D3S47 in a further three Australian families.…”

Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4)

“…However, the mutation is not present in TCDM1 (Farrar et al 1990b), indicating that a different mutation either in rhodopsin, or in another gene very closely linked to C17, is responsible for the disease in that family. Moreover, looser linkage (Ore = 0.08, Zm = 4.78) has now been demonstrated between type 2 ADRP and D3S47 in an Australian pedigree (Olsson et al 1990). Whereas one-lod confidence intervals between the Irish and Australian data just overlap, the data are nevertheless suggestive of the possible existence of two ADRP loci on 3q, separated by a distance of approximately 8 cM.…”

Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis

“…The assessment of 44 PDEB alleles from patients with LCA also did not reveal any DNA changes causing the disease. In view of the postulated high frequency of heterogeneity for different inherited forms of blindness (McKusick, 1988;McWilliam et al, 1989;Farrar et al, 1990;Kaplan et al, 1990;Olsson et al, 1990;Blanton et al, 1991;Dryja et al, 1991;Farrar et al, 1991a,b;Kajiwara et al, 1991) including LCA (Waardenburg and Schappert-Kimmijser, 1963)) it is still highly likely that mutations in the human PDEB gene will be shown to underlie some forms of blindness in humans. Further analysis of the 5'and 3'-UTR including the sites for polyadenylation has to be undertaken before one can exclude DNA changes in the PDEB gene as causing LCA.…”