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, θ = 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 1-lod confidence interval of 0.75 to 9.5 cM. Linkage was also observed between 754 and XLRP (Z = 3.41, θ = 0.00) and between pERT87 and XLRP (Z = 1.37, θ = 0.1). The heterogeneity of XLRP is discussed in relation to these observations.