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Literature DB >> 3422211

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

M J Denton¹, J D Chen, S Serravalle, P Colley, F B Halliday, J Donald.

Abstract

A number of variants of X-linked retinitis pigmentosa (XLRP) have been described. In one variant, listed in the McKusick (McK) catalogue (McKusick 1983) as entry no. 30320, the heterozygotes exhibit a golden metallic or tapetal reflex. Three large pedigrees segregating for XLRP with the characteristic tapetal reflex in the heterozygotes were examined, and the linkage between the XLRP locus and Xp loci, L1.28, OTC, 754, XJ-1.1, pERT87 and C7 was measured. The strongest linkage was found to be between the XLRP locus and OTC. In addition, recombinational evidence drawn from the three pedigrees suggests that the XLRP locus is distal to L1.28 and proximal to 754. This putative location of the XLRP gene between L1.28 and 754 taken together with the tight linkage to OTC, a locus already located between L1.28 and 754, leads us to propose a gene order of centromere-L1.28-OTC/XLRP-754-telomere.

Entities: Disease

Mesh：

Substances：
Genetic Markers
DNA

Year: 1988 PMID： 3422211 DOI： 10.1007/BF00291236

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

15 in total

1. 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

2. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors: L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal: Proc Natl Acad Sci U S A Date: 1977-03 Impact factor: 11.205

3. 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

4. Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.

Authors: H F Willard; M H Skolnick; P L Pearson; J L Mandel
Journal: Cytogenet Cell Genet Date: 1985

5. 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

6. The electro-oculogram: analysis in a sample of normal human subjects and in selected retino-choroidal diseases.

Authors: F B Halliday
Journal: Trans Ophthalmol Soc Aust Date: 1967

7. Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.

Authors: S Mukai; T P Dryja; G A Bruns; J F Aldridge; E L Berson
Journal: Am J Ophthalmol Date: 1985-08-15 Impact factor: 5.258

8. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

Authors: P N Ray; B Belfall; C Duff; C Logan; V Kean; M W Thompson; J E Sylvester; J L Gorski; R D Schmickel; R G Worton
Journal: Nature Date: 1985 Dec 19-1986 Jan 1 Impact factor: 49.962

9. 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

10. X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers.

Authors: G A Fishman; A B Weinberg; T T McMahon
Journal: Arch Ophthalmol Date: 1986-09

16 in total

1. Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.

Authors: A F Wright; S S Bhattacharya; M A Aldred; M Jay; A D Carothers; N S Thomas; A C Bird; B Jay; H J Evans
Journal: J Med Genet Date: 1991-07 Impact factor: 6.318

2. Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

Authors: M A Musarella; L Anson-Cartwright; S M Leal; L D Gilbert; R G Worton; G A Fishman; J Ott
Journal: Genomics Date: 1990-10 Impact factor: 5.736

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

Authors: J B Jiménez; C Samanns; A Watty; J Pongratz; J E Olsson; P Dickinson; R Buttery; A Gal; M J Denton
Journal: Hum Genet Date: 1991-01 Impact factor: 4.132

4. 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

5. Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors: R A Lewis
Journal: Trans Am Ophthalmol Soc Date: 1989