Literature DB >> 3163380

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

G J Farrar1, M T Geraghty, J M Moloney, D J McConnell, P Humphries.   

Abstract

There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with the previously published data on British and Danish families, the genetic distance between the DXS7 and XLRP loci is now estimated at 5 cM with a maximum lod score of 13.026 and a 1-lod confidence interval of 0.75 to 9.5 cM. Linkage was also observed between 754 and XLRP (Z = 3.41, theta = 0.00) and between pERT87 and XLRP (Z = 1.37, theta = 0.1). The heterogeneity of XLRP is discussed in relation to these observations.

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Year:  1988        PMID： 3163380      PMCID： PMC1015500          DOI： 10.1136/jmg.25.4.222

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  23 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  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

3.  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

4.  A cytological map of the human X chromosome--evidence for non-random recombination.

Authors:  D A Hartley; K E Davies; D Drayna; R L White; R Williamson
Journal:  Nucleic Acids Res       Date:  1984-07-11       Impact factor: 16.971

5.  On the heredity of retinitis pigmentosa.

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

6.  Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation.

Authors:  C Ingle; R Williamson; A de la Chapelle; R R Herva; K Haapala; G Bates; H F Willard; P Pearson; K E Davies
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

7.  Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Authors:  P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal:  Am J Hum Genet       Date:  1984-03       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.  Retinitis pigmentosa. Genetic percentages.

Authors:  G A Fishman
Journal:  Arch Ophthalmol       Date:  1978-05

10.  A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity.

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

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

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

2.  Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus.

Authors:  D G Bradley; G J Farrar; E M Sharp; P Kenna; M M Humphries; D J McConnell; S P Daiger; P McWilliam; P Humphries
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

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

Authors:  J Ott; S Bhattacharya; J D Chen; M J Denton; J Donald; C Dubay; G J Farrar; G A Fishman; D Frey; A Gal
Journal:  Proc Natl Acad Sci U S A       Date:  1990-01       Impact factor: 11.205
  3 in total

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