Literature DB >> 1740347

Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7.

N T Bech-Hansen1, B J Moore, W G Pearce.   

Abstract

A recombinant chromosome in a male affected with X-linked congenital stationary night blindness (CSNB1) provides new information on the location of the CSNB1 locus. A four-generation family with five males affected with X-linked CSNB was analyzed with five polymorphic markers for four X-chromosome loci spanning the region OTC (Xp21.1) to DXS255 (Xp11.22). Four of the males inherited the same X chromosome; one male inherited a chromosome that from OTC to DXS7, inclusive, was derived from the normal X chromosome of his unaffected grandfather and that from a location between DXS7 and DXS426 proximally was derived from the chromosome carrying the CSNB1 locus. This recombinant maps the CSNB1 locus in this family to a region on the short arm of the X chromosome proximal to the DXS7 locus.

Entities:  

Mesh：

Year:  1992        PMID： 1740347     DOI： 10.1016/0888-7543(92)90394-8

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  8 in total

1.  Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.

Authors:  A A Bergen; J B ten Brink; F Riemslag; E J Schuurman; F Meire; N Tijmes; P T de Jong
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

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

Review 4.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

5.  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

6.  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

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.