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-Hansen; L L Field; A M Schramm; M Reedyk; I W Craig; N J Fraser; W G Pearce

doi:10.1007/BF00195809

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

Hum Genet. 1990 Apr;84(5):406-8. doi: 10.1007/BF00195809.

Authors

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

Affiliation

¹ Alberta Children's Hospital Research Center, Calgary, Canada.

PMID: 1969841
DOI: 10.1007/BF00195809

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Female
Genetic Linkage*
Genetic Markers
Humans
Male
Night Blindness / congenital
Night Blindness / genetics*
Pedigree
Polymorphism, Restriction Fragment Length
Recombination, Genetic
Restriction Mapping
X Chromosome*

Substances

Genetic Markers