GENETIC-LINKAGE OF CONE-ROD RETINAL DYSTROPHY TO CHROMOSOME 19Q AND EVIDENCE FOR SEGREGATION DISTORTION

Authors
EVANS K FRYER A INGLEHEARN C DUVALLYOUNG J WHITTAKER JL GREGORY CY BUTLER R EBENEZER N HUNT DM BHATTACHARYA S
Citation
K. Evans et al., GENETIC-LINKAGE OF CONE-ROD RETINAL DYSTROPHY TO CHROMOSOME 19Q AND EVIDENCE FOR SEGREGATION DISTORTION, Nature genetics, 6(2), 1994, pp. 210-213
Citations number
34
Categorie Soggetti
Genetics & Heredity
Journal title
Nature genetics → ACNP
ISSN journal
10614036
Volume
6
Issue
2
Year of publication
1994
Pages
210 - 213
Database
ISI
SICI code
1061-4036(1994)6:2<210:GOCRDT>2.0.ZU;2-G
Abstract
Inherited retinal dystrophies are the most common cause of childhood b lindness in the developed world. Cone-rod retinal dystrophies are seve re examples of this group of disorders. Analysis of a large cone-rod d ystrophy pedigree suggested that inheritance within the family was inf luenced by meiotic drive (p=0.008), a rare segregation distortion in h uman genetics. Two-point linkage analysis showed significant linkage w ith three markers mapping to chromosome 19q. Multipoint analysis gave a maximum rod score of 10.08 (theta=0.05) distal to D19S47. Cone-rod d ystrophy is therefore assigned to 19q13.1-q13.2 and a new candidate lo cus for other retinal dystrophies is identified.