Literature DB >> 2890569

Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.

I M MacDonald1, R M Sandre, P Wong, A G Hunter, M P Tenniswood.   

Abstract

Choroideremia is a distinct blinding condition with an X-linked pattern of inheritance. We have analyzed two RFLPs, DXS3 and DXYS1, for linkage with the choroideremia locus (TCD) within three kindreds. A maximum LOD score of 3.98 was obtained at theta = 0.14 for TCD:DXS3. The summed maximum LOD score from this study and from previously published TCD:DXYS1 data is 5.23 at theta = 0.05. Contrary to previous reports, the present data demonstrate that these two RFLPs are not tightly linked to the choroideremia gene locus.

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Year:  1987        PMID： 2890569     DOI： 10.1007/bf00284475

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


  9 in total

1.  A hereditary and clinical study of choroideremia.

Authors:  C McCULLOCH; R J P McCULLOCH
Journal:  Trans Am Acad Ophthalmol Otolaryngol       Date:  1948 Jan-Feb

2.  Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors:  P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal:  Cytogenet Cell Genet       Date:  1985

3.  Choroideremia and the Xg locus: another look for linkage.

Authors:  A G Bell; J C McCulloch
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

4.  Choroideremia and the Xg blood group.

Authors:  A Other
Journal:  Acta Ophthalmol (Copenh)       Date:  1968

5.  Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.

Authors:  D Page; B de Martinville; D Barker; A Wyman; R White; U Francke; D Botstein
Journal:  Proc Natl Acad Sci U S A       Date:  1982-09       Impact factor: 11.205

6.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

7.  Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

Authors:  R L Nussbaum; R A Lewis; J G Lesko; R Ferrell
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

8.  Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24.

Authors:  R A Lewis; R L Nussbaum; R Ferrell
Journal:  Ophthalmology       Date:  1985-06       Impact factor: 12.079

9.  Choroideremia-locus maps between DXS3 and DXS11 on Xq.

Authors:  A Gal; F Brunsmann; D Hogenkamp; K Rüther; D Ahlert; T F Wienker; W Hammerstein; I H Pawlowitzki
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132
  9 in total
  5 in total

1.  Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.

Authors:  A A Bergen; C Samanns; E J Schuurman; L van Osch; D B van Dorp; A J Pinckers; E Bakker; A Gal; G J van Ommen; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

2.  Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

Authors:  F P Cremers; E M Sankila; F Brunsmann; M Jay; B Jay; A Wright; A J Pinckers; M Schwartz; D J van de Pol; B Wieringa
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

3.  Choroideremia: linkage analysis with physically mapped close DNA-markers.

Authors:  E M Sankila; P Sistonen; F Cremers; A de la Chapelle
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

4.  Isolation of a candidate gene for choroideremia.

Authors:  D E Merry; P A Jänne; J E Landers; R A Lewis; R L Nussbaum
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

5.  Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

Authors:  D E Merry; J G Lesko; D M Sosnoski; R A Lewis; M Lubinsky; B Trask; G van den Engh; F S Collins; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025
  5 in total

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