Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families
1995; Taylor & Francis; Volume: 16; Issue: 2 Linguagem: Inglês
10.3109/13816819509056914
ISSN1744-5094
AutoresArthur A. Bergen, L. I. BornVan den, E. J. M. Schuurman, A. Pinckers, G.J.B. van Ommen, E. M. Bleekers-Wagemakers, Lodewijk A. Sandkuijl,
Tópico(s)Advanced biosensing and bioanalysis techniques
ResumoLinkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (xlrp). 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 xlrp loci on the short arm of the human X chromosome, with one locus near the otc gene and one in the vicinity of dxs 255. Furthermore, our data confirm the hypothesis that a tapetal reflex in female carriers can be observed more frequently, if not exclusively, in xlrp families of the rp 3 type.
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