MULTIPOINT LINKAGE ANALYSIS AND HOMOGENEITY TESTS IN 15 DUTCH X-LINKED RETINITIS-PIGMENTOSA FAMILIES

被引：15

作者：

BERGEN, AAB

VANDENBORN, LI

SCHUURMAN, EJM

PINCKERS, AJLG

VANOMMEN, GJB

BLEEKERSWAGEMAKERS, EM

SANDKUIJL, LA

机构：

[1] The Netherlands Ophthalmic Research Institute, Amsterdam

[2] Department of Ophthalmology, University of Nijmegen

[3] Institute of Human Genetics, University of Leiden

来源：

OPHTHALMIC GENETICS | 1995年 / 16卷 / 02期

关键词：

X-LINKED RETINITIS PIGMENTOSA; LINKAGE ANALYSIS; HOMOGENEITY TESTS; X CHROMOSOME; GENETIC HETEROGENEITY; GENETIC MAPPING;

D O I：

10.3109/13816819509056914

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Linkage 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 Dxs255. 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 RP3 type.

引用

页码：63 / 70

页数：8

共 27 条

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