Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families

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...

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Published inGenomics (San Diego, Calif.) Vol. 8; no. 2; pp. 286 - 296
Main Authors Musarella, M.A., Anson-Cartwright, L., Leal, S.M., Gilbert, L.D., Worton, R.G., Fishman, G.A., Ott, J.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.10.1990
Subjects
Alleles
Chromosome Mapping
Female
Genetic Markers
Humans
Lod Score
Male
Pedigree
Polymorphism, Restriction Fragment Length
Retinitis Pigmentosa - genetics
X Chromosome
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:0888-7543
1089-8646
DOI:10.1016/0888-7543(90)90284-2