Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q
- Univ. of London (United Kingdom)
- Trinity College, Dublin (Ireland)
- Univ. of Otaga, Duneden (New Zealand)
- Universitaet zu Lubeck (Germany)
In 1989 McWilliam et al. reported close linkage of the autosomal dominant retinitis pigmentosa (adRP) locus to chromosome 3q marker D3S47 in a large Irish pedigree (McWilliam et al 1989). Subsequent studies confirmed linkage in two other adRP families (Lester et al 1990; Olsson et al. 1990). Shortly afterward, utations in the rhodopsin (RHO) gene, mapping to 3q21-24, were implicated in disease causation, and it is now known that around one-third of adRP results from such mutations (Dryja et al. 1991; Sung et al. 1991; Inglchearn et al. 1992a). At that time, sequencing studies had failed to find rhodopsin mutations in the three families first linked to 3q. Several adRP families in which rhodopsin mutations had been found gave lod scores that, when pooled, had a peak of 4.47 at a theta of .12 (Inglehearn et al. 1992b). The apparent lack of mutations in families TCDM1, adRP3, and 20 together with the linkage data in these and the proved RHO-RP families, led to speculation that two adRP loci existed on chromosome 3q (Olsson et al. 1990; Inglehearn et al. 1992b). However this situation has been reversed by more recent analysis, since rhodopsin mutations have now been found in all three families. There is therefore no longer any evidence to support the hypothesis that a second adRP locus exists close to rhodopsin on chromosome 3q.
- OSTI ID:
- 5914448
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:2; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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59 BASIC BIOLOGICAL SCIENCES
BODY
BODY AREAS
CHROMOSOMES
DEVELOPED COUNTRIES
DISEASES
EUROPE
EYES
FACE
GENE MUTATIONS
GENETIC MAPPING
HEAD
HUMAN CHROMOSOME 3
HUMAN CHROMOSOMES
IRELAND
MAPPING
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
PIGMENTS
PROTEINS
RETINA
RHODOPSIN
SENSE ORGANS
WESTERN EUROPE