Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families.
Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The results of both multipoint linkage analysis in individual families and heterogeneity analysis support the view that there are only two X L R P loci on the short arm of the human X chromosome, with one locus near the OTC gene and one in the vicinity of DXS255. Furthermore, our data confirm the hypothesis that a tapetal reflex in female carriers can be observed more frequently, if not exclusively, in X L R P families of the R P 3 type.
D000293:Adolescent; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009426:Netherlands; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA