Literature DB >> 2887320

X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85.

T Alitalo, J Kärnä, H Forsius, A de la Chapelle.   

Abstract

A linkage study was carried out in nine families with 24 males affected by X-linked recessive retinoschisis (RS), using three polymorphic DNA probes from the distal segment of Xp. Close linkage of the disease locus with markers DXS41 (probe p99-6) and DXS16 (pXUT23) was found, confirming the location of the RS gene on the distal short arm of the X chromosome. Lod scores for linkage with DXS85 (probe 782) were negative.

Entities:  

Mesh：

Substances：

Year:  1987        PMID： 2887320     DOI： 10.1111/j.1399-0004.1987.tb03353.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

1.  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

2.  Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

Authors:  T Alitalo; T A Kruse; H Forsius; A W Eriksson; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Linkage relationship between retinoschisis and four marker loci.

Authors:  G Gellert; J Peterson; M Krawczak; B Zoll
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

4.  Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.

Authors:  L Huopaniemi; A Rantala; E Tahvanainen; A de la Chapelle; T Alitalo
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

Review 5.  X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Authors:  Robert S Molday; Ulrich Kellner; Bernhard H F Weber
Journal:  Prog Retin Eye Res       Date:  2012-01-03       Impact factor: 21.198

6.  Linkage relationships and gene order around the locus for X-linked retinoschisis.

Authors:  T Alitalo; H Forsius; J Kärnä; R R Frants; A W Eriksson; S Wood; T A Kruse; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

7.  Genetic mapping of four DNA markers (DXS16, DXS43, DXS85, and DXS143) from the p22 region of the human X chromosome.

Authors:  C J Brown; M M Mahtani; H F Willard
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

8.  Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Authors:  J Kaplan; A Pelet; H Hentati; M Jeanpierre; M L Briard; H Journel; A Munnich; J L Dufier
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.