Literature DB >> 8950671

Improved genetic mapping of X linked retinoschisis.

N D George1, S J Payne, R M Bill, D E Barton, A T Moore, J R Yates.   

Abstract

X linked retinoschisis (RS) causes poor vision in affected males owing to radial cystic changes at the macula. Genetic linkage analysis was carried out in 16 British families with X linked retinoschisis using markers from the Xp22 region. Linkage was confirmed between the RS locus and the markers DXS207 (lod score, Zmax = 17.9 at recombination fraction theta = 0.03; confidence interval for theta = 0.007-0.09), DXS1053 (Zmax = 18.0 at theta = 0.01, CI = 0.001-0.06), DXS43 (Zmax = 12.9 at theta = 0.03, CI = 0.004-0.09), DXS1195 (Zmax = 6.4 at theta = 0.00), DXS418 (Zmax = 8.2 at theta = 0.00), DXS999 (Zmax = 21.2 at theta = 0.01, CI = 0.001-0.05), DXS443 (Zmax = 14.2 at theta = 0.03, CI = 0.004-0.09), DXS365 (Zmax = 24.5 at theta = 0.008, CI = 0.001-0.04). Key recombinants placed RS between DXS43 distally and DXS999 proximally. Multipoint linkage analysis gave odds of 344:1 in favour of this location for RS and supported the map Xpter-(DXS207, DXS1053)-DXS43-1 cM-RS-1 cM-DXS999-DXS443-DXS365-DXS1052-Xcen.

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Year:  1996        PMID： 8950671      PMCID： PMC1050785          DOI： 10.1136/jmg.33.11.919

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


  29 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  Refined localization of the gene causing X-linked juvenile retinoschisis.

Authors:  T Alitalo; T A Kruse; A de la Chapelle
Journal:  Genomics       Date:  1991-03       Impact factor: 5.736

3.  Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.

Authors:  T Alitalo; T A Kruse; P Ahrens; H M Albertsen; A W Eriksson; A de la Chapelle
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

4.  Dinucleotide repeat polymorphisms at the DXS365, DXS443 and DXS451 loci.

Authors:  D Browne; D Barker; M Litt
Journal:  Hum Mol Genet       Date:  1992-06       Impact factor: 6.150

5.  X-chromosomal recessive retinoschisis in the Region of Pori. An ophthalmo-genetical analysis of 103 cases.

Authors:  B Vainio-Mattila; A W Eriksson; H Forsius
Journal:  Acta Ophthalmol (Copenh)       Date:  1969

6.  New markers for linkage analysis of X-linked hypophosphataemic rickets.

Authors:  P S Rowe; J Goulding; A Read; R Mountford; A Hanauer; C Oudet; M P Whyte; S Meier-Ewert; H Lehrach; K E Davies
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

7.  A CA-repeat polymorphism near DXS418 (P122).

Authors:  E Van De Vosse; P F Booms; R H Vossen; M C Wapenaar; G J Van Ommen; J T Den Dunnen
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

8.  Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).

Authors:  P S Rowe; J Goulding; A Read; H Lehrach; F Francis; A Hanauer; C Oudet; V Biancalana; S W Kooh; K E Davies
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

9.  Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

Authors:  C Oudet; C Weber; J Kaplan; B Segues; M F Croquette; E O Roman; A Hanauer
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

10.  A high resolution deletion map of human chromosome Xp22.

Authors:  L Schaefer; G B Ferrero; A Grillo; M T Bassi; E J Roth; M C Wapenaar; G J van Ommen; T K Mohandas; M Rocchi; H Y Zoghbi; A Ballabio
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330
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  1 in total

1.  Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.

Authors:  K Bradshaw; N George; A Moore; D Trump
Journal:  Doc Ophthalmol       Date:  1999       Impact factor: 1.854
  1 in total

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