Literature DB >> 2300556

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.

J Ott1, S Bhattacharya, J D Chen, M J Denton, J Donald, C Dubay, G J Farrar, G A Fishman, D Frey, A Gal.   

Abstract

Multilocus linkage analysis of 62 family pedigrees with X chromosome-linked retinitis pigmentosa (XLRP) was undertaken to determine the presence of possible multiple disease loci and to reliably estimate their map location. Multilocus homogeneity tests furnished convincing evidence for the presence of two XLRP loci, the likelihood ratio being 6.4 x 10(9):1 in favor of two versus a single XLRP locus and gave accurate estimates for their map location. In 60-75% of the families, location of an XLRP gene was estimated at 1 centimorgan distal to OTC, and in 25-40% of the families, an XLRP locus was located halfway between DXS14 (p58-1) and DXZ1 (Xcen), with an estimated recombination fraction of 25% between the two XLRP loci. There is also good evidence for a third XLRP locus, midway between DXS28 (C7) and DXS164 (pERT87), supported by a likelihood ratio of 293:1 for three versus two XLRP loci.

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Year:  1990        PMID： 2300556      PMCID： PMC53333          DOI： 10.1073/pnas.87.2.701

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  14 in total

1.  Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.

Authors:  M A Musarella; A Burghes; L Anson-Cartwright; M M Mahtani; R Argonza; L C Tsui; R Worton
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

2.  Efficient computations in multilocus linkage analysis.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1988-03       Impact factor: 11.025

3.  Linkage analysis of X linked retinitis pigmentosa in the Irish population.

Authors:  G J Farrar; M T Geraghty; J M Moloney; D J McConnell; P Humphries
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

4.  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

5.  The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy.

Authors:  J H Edwards
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

6.  Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.

Authors:  R L Nussbaum; R A Lewis; J G Lesko; R Ferrell
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Risk calculations under heterogeneity.

Authors:  D E Weeks; J Ott
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

8.  Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.

Authors:  S S Bhattacharya; A F Wright; J F Clayton; W H Price; C I Phillips; C M McKeown; M Jay; A C Bird; P L Pearson; E M Southern
Journal:  Nature       Date:  1984 May 17-23       Impact factor: 49.962

9.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Authors:  U Francke; H D Ochs; B de Martinville; J Giacalone; V Lindgren; C Distèche; R A Pagon; M H Hofker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

10.  Two different genes for X-linked retinitis pigmentosa.

Authors:  B Wirth; M J Denton; J D Chen; M Neugebauer; F B Halliday; M van Schooneveld; J Donald; E M Bleeker-Wagemakers; P L Pearson; A Gal
Journal:  Genomics       Date:  1988-04       Impact factor: 5.736
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  52 in total

1.  Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

Authors:  G J Farrar; P Kenna; R Redmond; P McWilliam; D G Bradley; M M Humphries; E M Sharp; C F Inglehearn; R Bashir; M Jay
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

2.  Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

Authors:  L A Janssen; L A Sandkuijl; J R Sampson; D J Halley
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

3.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

4.  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

5.  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

6.  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

7.  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

8.  Interpreting nonsignificant outcomes of heterogeneity tests in gene mapping.

Authors:  C Mérette; T Lehner; J Ott
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

9.  X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.

Authors:  R E McGuire; L S Sullivan; S H Blanton; M W Church; J R Heckenlively; S P Daiger
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

10.  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
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