title: Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier.
abstract: An extended linkage analysis was performed on the large Latin-American kindred with X-linked retinitis pigmentosa (XLRP) and metallic sheen in the heterozygous carrier studied and reported previously by R.L. Nussbaum et al. (1985, Hum. Genet. 70:45-50) and on a smaller family with the same XLRP variant. In these kindreds the XLRP locus shows close linkage with Xp21 marker loci OTC and DXS206. The results of this linkage analysis agree with the observations made by Nussbaum et al. (1985) that an XLRP locus is distal to DXS7.
authors.affiliation: Department of Opthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: M A
authors.initials: MA
authors.lastname: Musarella
authors.forename: L
authors.initials: L
authors.lastname: Anson-Cartwright
authors.forename: A
authors.initials: A
authors.lastname: Burghes
authors.forename: R G
authors.initials: RG
authors.lastname: Worton
authors.forename: J G
authors.initials: JG
authors.lastname: Lesko
authors.forename: R L
authors.initials: RL
authors.lastname: Nussbaum
mesh_terms: D003434:Crossing Over, Genetic; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*
chemical_list: D005819:Genetic Markers