Literature DB >> 7662636

Efficient DNA carrier detection in X linked juvenile retinoschisis.

A A Bergen1, J B ten Brink, M J van Schooneveld.   

Abstract

Juvenile retinoschisis is a rare, X linked hereditary vitroretinal degeneration. Female carriers of the disease do not develop any ocular abnormalities. Therefore, carrier detection by DNA analysis is extremely useful for these females. In order to evaluate the usefulness of a new class of DNA markers for carrier detection in X linked juvenile retinoschisis, DNA carrier detection or carrier exclusion was carried out in four possible carriers for X linked juvenile retinoschisis. The use of these highly polymorphic CA repeats, closely linked to the RS gene, greatly enhances both the reliability and feasibility of carrier detection in X linked juvenile retinoschisis.

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Year:  1995        PMID： 7662636      PMCID： PMC505199          DOI： 10.1136/bjo.79.7.683

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  16 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.  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

3.  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

4.  Detection of the carrier state of X-linked retinoschisis.

Authors:  G B Arden; M B Gorin; P J Polkinghorne; M Jay; A C Bird
Journal:  Am J Ophthalmol       Date:  1988-06-15       Impact factor: 5.258

5.  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

6.  Visual acuity in 183 cases of X-chromosomal retinoschisis.

Authors:  H Forsius; U Krause; J Helve; V Vuopala; E Mustonen; B Vainio-Mattila; J Fellman; A W Eriksson
Journal:  Can J Ophthalmol       Date:  1973-07       Impact factor: 1.882

7.  DNA linkage analysis of X-linked retinoschisis.

Authors:  N Dahl; P Goonewardena; J Chotai; M Anvret; U Pettersson
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

8.  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

9.  Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.

Authors:  E Bakker; M H Hofker; N Goor; J L Mandel; K Wrogemann; K E Davies; L M Kunkel; H F Willard; W A Fenton; L Sandkuyl
Journal:  Lancet       Date:  1985-03-23       Impact factor: 79.321

10.  Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes.

Authors:  P A Sieving; E L Bingham; M S Roth; M R Young; M Boehnke; C Y Kuo; D Ginsburg
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025
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