Multipoint Linkage Analysis and Heterogeneity Testing in 20 X-linked
Retinitis Pigmentosa Families
M.A. Musarella, L. Anson-Cartwright, S.M. Leal,
L.D. Gilbert, R.G. Worton, G.A. Fishman, J. Ott
AUTHOR
Genomics , 8(2), 286--296, (1990 Oct)
Abstract
Using multipoint linkage analysis in 20 families segregating for
X-linked retinitis pigmentosa (XLRP), the lod scores on a map of
eight RFLP loci were obtained. Our results indicate that under the
hypothesis of homogeneity the maximal multipoint lod score supports
one disease locus located slightly distal to OTC at Xp21.1.
Heterogeneity testing for two XLRP loci suggested that a second XLRP
locus may be located 8.5 cM proximal to DXS28 at Xp21.3. Further
heterogeneity testing for three disease loci failed to detect a
third XLRP locus proximal to DXS7 in any of our 20 XLRP families.
