Literature DB >> 8023838

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.

P W Teague1, M A Aldred, M Jay, M Dempster, C Harrison, A D Carothers, L J Hardwick, H J Evans, L Strain, D J Brock.   

Abstract

Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P = .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0.4 cM distal to OTC in the Xp21.1 region, and that of the RP2 locus was 6.5 cM proximal to DXS7 in Xp11.2-p11.3. Bayesian probabilities of linkage to RP2, RP3, or to neither locus were calculated. This showed that 20 of 40 kindreds could be assigned to one or the other locus, with a probability > .70 (14 kindreds with RP3 and 6 kindreds with RP2 disease). A further three kindreds were found to be unlinked to either locus, with a probability > .8. The remaining 17 kindreds could not be classified unambiguously. This highlights the difficulty of classifying families in the presence of genetic heterogeneity, where the two loci are separated by an estimated 16 cM.

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Year:  1994        PMID： 8023838      PMCID： PMC1918208     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  28 in total

1.  Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

Authors:  M Coleman; S Bhattacharya; S Lindsay; A Wright; M Jay; M Litt; I Craig; K Davies
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

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3.  Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.

Authors:  C A Feener; F M Boyce; L M Kunkel
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

4.  X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome.

Authors:  U Friedrich; M Warburg; P Wieacker; T F Wienker; A Gal; H H Ropers
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  On the heredity of retinitis pigmentosa.

Authors:  M Jay
Journal:  Br J Ophthalmol       Date:  1982-07       Impact factor: 4.638

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Journal:  Nature       Date:  1984 May 17-23       Impact factor: 49.962

7.  Strategies for multilocus linkage analysis in humans.

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Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

8.  DNA probes in X-linked retinitis pigmentosa.

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Journal:  Trans Ophthalmol Soc U K       Date:  1983

9.  X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.

Authors:  S G Jacobson; A J Roman; A V Cideciyan; M G Robey; T Iwata; G Inana
Journal:  Invest Ophthalmol Vis Sci       Date:  1992-12       Impact factor: 4.799

10.  A study of retinitis pigmentosa in the City of Birmingham. I Prevalence.

Authors:  S Bundey; S J Crews
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318
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  22 in total

1.  Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.

Authors:  C J Flaxel; M Jay; D L Thiselton; M Nayudu; A J Hardcastle; A Wright; A C Bird
Journal:  Br J Ophthalmol       Date:  1999-10       Impact factor: 4.638

2.  A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.

Authors:  T L Young; L Penney; M O Woods; P S Parfrey; J S Green; D Hefferton; W S Davidson
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

3.  Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Authors:  R Fujita; M Buraczynska; L Gieser; W Wu; P Forsythe; M Abrahamson; S G Jacobson; P A Sieving; S Andréasson; A Swaroop
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

4.  A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.

Authors:  R Fujita; E Bingham; P Forsythe; C McHenry; V Aita; B A Navia; K Dry; M Segal; M Devoto; G Bruns; A F Wright; J Ott; P A Sieving; A Swaroop
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

5.  RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Authors:  Thiran Jayasundera; Kari E H Branham; Mohammad Othman; William R Rhoades; Athanasios J Karoukis; Hemant Khanna; Anand Swaroop; John R Heckenlively
Journal:  Arch Ophthalmol       Date:  2010-07

6.  Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.

Authors:  Fang Hu; Xiang-Yun Zeng; Lin-Lin Liu; Yao-Ling Luo; Yi-Ping Jiang; Hui Wang; Jing Xie; Cheng-Quan Hu; Lin Gan; Liang Huang
Journal:  Int J Ophthalmol       Date:  2014-10-18       Impact factor: 1.779

7.  A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

Authors:  L Gieser; R Fujita; H H Göring; J Ott; D R Hoffman; A V Cideciyan; D G Birch; S G Jacobson; A Swaroop
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

8.  Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Authors:  Kari Branham; Mohammad Othman; Matthew Brumm; Athanasios J Karoukis; Pelin Atmaca-Sonmez; Beverly M Yashar; Sharon B Schwartz; Niamh B Stover; Karmen Trzupek; Dianna Wheaton; Barbara Jennings; Maria Laura Ciccarelli; K Thiran Jayasundera; Richard A Lewis; David Birch; Jean Bennett; Paul A Sieving; Sten Andreasson; Jacque L Duncan; Gerald A Fishman; Alessandro Iannaccone; Richard G Weleber; Samuel G Jacobson; John R Heckenlively; Anand Swaroop
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-12-13       Impact factor: 4.799

9.  Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa.

Authors:  M A Aldred; K L Dry; E B Knight-Jones; L J Hardwick; P W Teague; D H Lester; J Brown; G Spowart; A D Carothers; J A Raeburn
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

10.  Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.

Authors:  M A Aldred; P W Teague; M Jay; S Bundey; R M Redmond; B Jay; A C Bird; S S Bhattacharya; A F Wright
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318
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