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| GENETIC-LINKAGE OF CONE-ROD RETINAL DYSTROPHY TO CHROMOSOME 19Q AND EVIDENCE FOR SEGREGATION DISTORTION |
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| Author(s): EVANS K, FRYER A, INGLEHEARN C, DUVALLYOUNG J, WHITTAKER JL, GREGORY CY, BUTLER R, EBENEZER N, HUNT DM, BHATTACHARYA S |
| Source: NATURE GENETICS Volume: 6 Issue: 2 Pages: 210-213 Published: FEB 1994 |
| Times Cited: 87 References: 34 |
| Abstract: 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 rod 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: EVANS, K (reprint author), INST OPHTHALMOL, DEPT MOLEC GENET, BATH ST, LONDON EC1V 9EL, ENGLAND |
Addresses:
1. INST CHILD HLTH, DEPT MOLEC GENET, LIVERPOOL L12 2AP, ENGLAND
2. WALTON HOSP, LIVERPOOL L9 1AE, ENGLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: MU763 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |