Literature DB >> 2894345

DNA linkage analysis of X-linked retinoschisis.

N Dahl1, P Goonewardena, J Chotai, M Anvret, U Pettersson.   

Abstract

Four families with juvenile retionoschisis (RS) have been studied by linkage analysis utilizing eleven polymorphic X-chromosomal markers. The results suggest a close linkage between DXS43, DXS41, and DXS208 and the RS locus at Xp22. The RS locus is distal to the OTC locus, DXS84, and the DMD locus but proximal to DXS85. No recombination events were observed between the RS locus and DXS43 and DXS41. The maximum likelihood estimate of the recombination fraction (theta) was thus zero and the peak lod scores (z) were 4.98 (DXS43) and 4.09 (DXS41). The linkage data suggest that the gene order on Xp is DXS85-(DXS43, RS, DXS41)-DMD-DXS84-OTC.

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Year:  1988        PMID： 2894345     DOI： 10.1007/bf00291666

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


  15 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.  Pathology of hereditary juvenile retinoschisis.

Authors:  W A Manschot
Journal:  Arch Ophthalmol       Date:  1972-08

4.  An anonymous X-chromosomal clone identifying a frequent RFLP at Xp21-22 (HGM8 provisional no. DXS207).

Authors:  P Ahrens; T A Kruse
Journal:  Nucleic Acids Res       Date:  1986-10-10       Impact factor: 16.971

5.  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

6.  The genetic linkage map of the human X chromosome.

Authors:  D Drayna; R White
Journal:  Science       Date:  1985-11-15       Impact factor: 47.728

7.  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

8.  Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome.

Authors:  P Wieacker; T F Wienker; B Dallapiccola; K Bender; K E Davies; H H Ropers
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Human X chromosome markers and Duchenne muscular dystrophy.

Authors:  K E Davies; A Speer; F Herrmann; A W Spiegler; S McGlade; M H Hofker; P Briand; R Hanke; M Schwartz; V Steinbicker
Journal:  Nucleic Acids Res       Date:  1985-05-24       Impact factor: 16.971

10.  Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

Authors:  C S Brown; N S Thomas; M Sarfarazi; K E Davies; L Kunkel; P L Pearson; H M Kingston; D J Shaw; P S Harper
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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  13 in total

1.  Three DNA markers for hypophosphataemic rickets.

Authors:  P S Rowe; A P Read; R Mountford; F Benham; T A Kruse; G Camerino; K E Davies; J L O'Riordan
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

2.  Male proband with X linked retinoschisis apparently inherited from his father's family.

Authors:  M S Newton; S Collyer; C I Phillips
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

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.  Improved genetic mapping of X linked retinoschisis.

Authors:  N D George; S J Payne; R M Bill; D E Barton; A T Moore; J R Yates
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

5.  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

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

9.  Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.

Authors:  A A Bergen; J B ten Brink; L M Bleeker-Wagemakers; M J van Schooneveld
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

10.  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
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