title: Linkage analysis of X linked retinitis pigmentosa in the Irish population.
abstract: There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with the previously published data on British and Danish families, the genetic distance between the DXS7 and XLRP loci is now estimated at 5 cM with a maximum lod score of 13.026 and a 1-lod confidence interval of 0.75 to 9.5 cM. Linkage was also observed between 754 and XLRP (Z = 3.41, theta = 0.00) and between pERT87 and XLRP (Z = 1.37, theta = 0.1). The heterogeneity of XLRP is discussed in relation to these observations.
authors.affiliation: Genetics Department, Trinity College Dublin, Ireland.
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: M T
authors.initials: MT
authors.lastname: Geraghty
authors.forename: J M
authors.initials: JM
authors.lastname: Moloney
authors.forename: D J
authors.initials: DJ
authors.lastname: McConnell
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007494:Ireland; D008297:Male; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers