Literature DB >> 1969841

A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome.

N T Bech-Hansen1, L L Field, A M Schramm, M Reedyk, I W Craig, N J Fraser, W G Pearce.   

Abstract

Linkage between X-linked congenital stationary night blindness (CSNB1) and seven markers on the X chromosome was investigated in a large four-generation Albertan kindred. We detected significant linkage between the CSNB1 locus and the locus DXS255 (maximum lod score = 6.73 at a recombination fraction of 6%; confidence interval of 1% to 18%), which anchors the CSNB1 locus to the proximal region near p11.22 on the short arm of the X chromosome.

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Year:  1990        PMID： 1969841     DOI： 10.1007/bf00195809

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


  14 in total

1.  Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.

Authors:  M A Musarella; A Burghes; L Anson-Cartwright; M M Mahtani; R Argonza; L C Tsui; R Worton
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

2.  Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

Authors:  N J Fraser; Y Boyd; I Craig
Journal:  Genomics       Date:  1989-07       Impact factor: 5.736

3.  Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors:  K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal:  Cytogenet Cell Genet       Date:  1987

4.  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

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.  Syndrome of congenital high myopia with nyctalopia. Report of findings in 25 families.

Authors:  S Merin; H Rowe; E Auerbach; J Landau
Journal:  Am J Ophthalmol       Date:  1970-10       Impact factor: 5.258

7.  Report of the committee on the genetic constitution of the X chromosome.

Authors:  J L Mandel; H F Willard; R L Nussbaum; K E Davies; G Romeo
Journal:  Cytogenet Cell Genet       Date:  1988

Review 8.  Prenatal exclusion of Norrie disease with flanking DNA markers.

Authors:  A Gal; S Uhlhaas; D Glaser; T Grimm
Journal:  Am J Med Genet       Date:  1988-10

9.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

10.  Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Authors:  L M Bleeker-Wagemakers; U Friedrich; A Gal; T F Wienker; M Warburg; H H Ropers
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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  8 in total

1.  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

2.  Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity.

Authors:  N T Bech-Hansen; W G Pearce
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

3.  Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Authors:  W Berger; G van Duijnhoven; A Pinckers; A Smits; H H Ropers; F Cremers
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

4.  Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

Authors:  A A Bergen; P Kestelyn; M Leys; F Meire
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

5.  Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Authors:  K M Boycott; W G Pearce; M A Musarella; R G Weleber; T A Maybaum; D G Birch; Y Miyake; R S Young; N T Bech-Hansen
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

6.  A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.

Authors:  C U Kirchgessner; J A Trofatter; M M Mahtani; H F Willard; L J DeGennaro
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

7.  Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.

Authors:  H Jensen; M Warburg; O Sjö; M Schwartz
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

8.  Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Authors:  I A Glass; P Good; M P Coleman; P Fullwood; M G Giles; S Lindsay; A H Nemeth; K E Davies; H A Willshaw; A Fielder
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318
  8 in total

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