Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.
Inherited retinal dystrophies are the most common cause of childhood blindness in the developed world. Cone-rod retinal dystrophies are severe examples of this group of disorders. Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. Two-point linkage analysis showed significant linkage with three markers mapping to chromosome 19q. Multipoint analysis gave a maximum lod score of 10.08 (theta = 0.05) distal to D19S47. Cone-rod dystrophy is therefore assigned to 19q13.1-q13.2 and a new candidate locus for other retinal dystrophies is identified.
Evans
K
K
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
Fryer
A
A
Inglehearn
C
C
Duvall-Young
J
J
Whittaker
J L
JL
Gregory
C Y
CY
Butler
R
R
Ebenezer
N
N
Hunt
D M
DM
Bhattacharya
S
S
D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004739:England; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009630:Nondisjunction, Genetic; D010375:Pedigree; D011110:Polymorphism, Genetic; D012162:Retinal Degeneration / Q000235:genetics*
D005819:Genetic Markers