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. 1988 Apr;25(4):222-6.
doi: 10.1136/jmg.25.4.222.

Linkage analysis of X linked retinitis pigmentosa in the Irish population

G J Farrar  1 , M T Geraghty, J M Moloney, D J McConnell, P Humphries
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Linkage analysis of X linked retinitis pigmentosa in the Irish population

G J Farrar et al. J Med Genet. 1988 Apr.

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.

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