Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

A. A. Bergen; L. I. van den Born; E. J. Schuurman; A. J. Pinckers; G. J. van Ommen; E. M. Bleekers-Wagemakers; L. A. Sandkuijl

doi:https://doi.org/10.3109/13816819509056914

Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

A. A. Bergen, L. I. van den Born, E. J. Schuurman, A. J. Pinckers, G. J. van Ommen, E. M. Bleekers-Wagemakers, L. A. Sandkuijl

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Abstract

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

Original language	English
Pages (from-to)	63-70
Journal	Ophthalmic Genetics
Volume	16
Issue number	2
DOIs	https://doi.org/10.3109/13816819509056914
Publication status	Published - 1995

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https://doi.org/10.3109/13816819509056914

Cite this

@article{6f9c299f72bf4d88999888c902c49b41,

title = "Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families",

abstract = "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",

author = "Bergen, {A. A.} and {van den Born}, {L. I.} and Schuurman, {E. J.} and Pinckers, {A. J.} and {van Ommen}, {G. J.} and Bleekers-Wagemakers, {E. M.} and Sandkuijl, {L. A.}",

year = "1995",

doi = "https://doi.org/10.3109/13816819509056914",

language = "English",

volume = "16",

pages = "63--70",

journal = "Ophthalmic Genetics",

issn = "1381-6810",

publisher = "Informa Healthcare",

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TY - JOUR

T1 - Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

AU - Bergen, A. A.

AU - van den Born, L. I.

AU - Schuurman, E. J.

AU - Pinckers, A. J.

AU - van Ommen, G. J.

AU - Bleekers-Wagemakers, E. M.

AU - Sandkuijl, L. A.

PY - 1995

Y1 - 1995

N2 - 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

AB - 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

U2 - https://doi.org/10.3109/13816819509056914

DO - https://doi.org/10.3109/13816819509056914

M3 - Article

C2 - 7493158

SN - 1381-6810

VL - 16

SP - 63

EP - 70

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

IS - 2

ER -