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

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 fractio...

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Bibliographic Details
Published inHuman genetics Vol. 84; no. 5; p. 406
Main Authors Bech-Hansen, N T, Field, L L, Schramm, A M, Reedyk, M, Craig, I W, Fraser, N J, Pearce, W G
Format Journal Article
LanguageEnglish
Published Germany 01.04.1990
Subjects
Female
Genetic Linkage
Genetic Markers
Humans
Male
Night Blindness - congenital
Night Blindness - genetics
Pedigree
Polymorphism, Restriction Fragment Length
Recombination, Genetic
Restriction Mapping
X Chromosome
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00195809