Refinement of the cone-rod retinal dystrophy locus on chromosome 19q
- Institute of Ophthalmology, London (United Kingdom)
- Institute of Child Health, Liverpool (United Kingdom)
- Genethon, Enry (France)
Cone-rod dystrophy (CRD) is a severe example of an inherited retinal dystrophy: ophthalmic diseases that as a group constitute the commonest causes of blindness in children in the developed world and account for a significant proportion of visual handicap in adults. Two case reports suggested loci for CRD-causing genes on chromosomes 18q and chromosome 17q. Recently, we reported the results of a total genome search that localized an autosomal dominant form of CRD to chromosome 19q in the region 19q13.1-q13.2. Since then, using data from a short tandem repeat-polymorphism linkage map of chromosome 19 and recently developed microsatellite markers in this region, we have been able to further refine the localization of the chromosome 19q CRD-causing gene. Seven new microsatellite markers were used to genotype 34 affected subjects, 22 unaffected subjects, and 15 spouses. Two-point, multipoint, and FASTMAP analyses were performed. 11 refs., 1 tab.
- OSTI ID:
- 56850
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue 5; Other Information: PBD: Nov 1994
- Country of Publication:
- United States
- Language:
- English
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