Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.
Congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by night blindness, nystagmus, myopia, a variable decrease in visual acuity, an abnormal electroretinographic response, and a disturbance in dark adaptation. Two forms of X-linked CSNB have been defined, complete CSNB in which rod function is extinguished, and incomplete CSNB in which rod function is reduced but not extinguished, as seen by electroretinography and dark adaptometry. In studying a large family of Mennonite ancestry, we have confirmed linkage between the locus (CSNB2) for incomplete CSNB and genetic markers in the Xp11 region. In particular, lod scores of 12.25 and 15.26 at zero recombination were observed between CSNB2 and the markers DXS573 and DXS255. Detailed analysis of critical recombinant chromosomes in this extended family have refined the minimal region for the CSNB2 locus to the interval between DXS6849 and DXS8023 in Xp11.23.
Department of Medical Genetics, Faculty of Medicine, University of Calgary, Alberta, Canada. ntbech@acs.ucalgary.ca
N T
NT
Bech-Hansen
K M
KM
Boycott
K J
KJ
Gratton
D A
DA
Ross
L L
LL
Field
W G
WG
Pearce
D000222:Adaptation, Physiological; D002874:Chromosome Mapping; D003624:Darkness; D004596:Electroretinography; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D014960:X Chromosome