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Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

ABSTRACT: A form of autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 7p was recently reported by this laboratory, in a single large family from southeastern England. Further sampling of the family and the use a number of genetic markers from 7p have facilitated the construction of a series of multipoint linkage maps of the region with the most likely disease gene location. From this and haplotype data, the locus can now be placed between the markers D7S484 and D7S526, in an interval estimated to be 1.6-4 cM. Genetic distances between the markers previously reported to be linked to this region and those described in the recent whole-genome poly-CA map were estimated from data in this and other families. These data should assist in the construction of a physical map of the region and will help to identify candidate genes for the 7p adRP locus.

SUBMITTER: Inglehearn CF

PROVIDER: S-EPMC1918098 | biostudies-other | 1994 Apr

REPOSITORIES: biostudies-other

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Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

Inglehearn C F CF Keen T J TJ al-Maghtheh M M Gregory C Y CY Jay M R MR Moore A T AT Bird A C AC Bhattacharya S S SS

American journal of human genetics 19940401 4

A form of autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 7p was recently reported by this laboratory, in a single large family from southeastern England. Further sampling of the family and the use a number of genetic markers from 7p have facilitated the construction of a series of multipoint linkage maps of the region with the most likely disease gene location. From this and haplotype data, the locus can now be placed between the markers D7S484 and D7S526, in an interval es ...[more]

PMID: 8128965

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