Literature DB >> 1997379

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

J B Jiménez1, C Samanns, A Watty, J Pongratz, J E Olsson, P Dickinson, R Buttery, A Gal, M J Denton.   

Abstract

A linkage analysis has been performed on three Australian families segregating for autosomal dominant retinitis pigmentosa (ADRP). No evidence of linkage has been found in any of the pedigrees studied between the locus D3S47 and the gene for ADRP. The D3S47 locus was found to show very close linkage with the ADRP gene in a large Irish pedigree. Our study together with a similar report on a British family indicates that there is genetic heterogeneity in this disease.

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Year:  1991        PMID： 1997379     DOI： 10.1007/bf00202406

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

1.  Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.

Authors:  P McWilliam; G J Farrar; P Kenna; D G Bradley; M M Humphries; E M Sharp; D J McConnell; M Lawler; D Sheils; C Ryan
Journal:  Genomics       Date:  1989-10       Impact factor: 5.736

2.  Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7.

Authors:  M J Denton; J D Chen; S Serravalle; P Colley; F B Halliday; J Donald
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

3.  A genetic linkage map of the human genome.

Authors:  H Donis-Keller; P Green; C Helms; S Cartinhour; B Weiffenbach; K Stephens; T P Keith; D W Bowden; D R Smith; E S Lander
Journal:  Cell       Date:  1987-10-23       Impact factor: 41.582

4.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

5.  Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

Authors:  G J Farrar; P McWilliam; D G Bradley; P Kenna; M Lawler; E M Sharp; M M Humphries; H Eiberg; P M Conneally; J A Trofatter
Journal:  Genomics       Date:  1990-09       Impact factor: 5.736

6.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Authors:  T P Dryja; T L McGee; E Reichel; L B Hahn; G S Cowley; D W Yandell; M A Sandberg; E L Berson
Journal:  Nature       Date:  1990-01-25       Impact factor: 49.962

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

Authors:  J E Olsson; C Samanns; J Jimenez; J Pongratz; A Chand; A Watty; S A Seuchter; M Denton; A Gal
Journal:  Am J Med Genet       Date:  1990-04

8.  No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity.

Authors:  C F Inglehearn; M Jay; D H Lester; R Bashir; B Jay; A C Bird; A F Wright; H J Evans; S S Papiha; S S Bhattacharya
Journal:  Genomics       Date:  1990-01       Impact factor: 5.736
  8 in total
  2 in total

1.  Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.

Authors:  L S Sullivan; J R Heckenlively; S J Bowne; J Zuo; W A Hide; A Gal; M Denton; C F Inglehearn; S H Blanton; S P Daiger
Journal:  Nat Genet       Date:  1999-07       Impact factor: 38.330

2.  Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.

Authors:  C F Inglehearn; D H Lester; R Bashir; U Atif; T J Keen; A Sertedaki; J Lindsey; M Jay; A C Bird; G J Farrar
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025
  2 in total

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