Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

Jurg Ott; Shomi Bhattacharya; J. D. Chen; Michael J. Denton; Jenny Donald; Christopher Dubay; G. Jane Farrar; Gerald A. Fishman; Daniel Frey; Andreas Gal; Pete Humphries; B. Jay; Marcelle Jay; Michael Litt; Marco Mächler; Maria Musarella; Meinhard Neugebauer; Robert L. Nussbaum; Joseph D. Terwilliger; Richard G. Weleber; Brunhilde Wirth; Fulton Wong; Ronald G. Worton; Alan F. Wright

doi:10.1073/pnas.87.2.701

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

Jurg Ott, Shomi Bhattacharya, J. D. Chen, Michael J. Denton, Jenny Donald, Christopher Dubay, G. Jane Farrar, Gerald A. Fishman, Daniel Frey, Andreas Gal, Pete Humphries, B. Jay, Marcelle Jay, Michael Litt, Marco Mächler, Maria Musarella, Meinhard Neugebauer, Robert L. Nussbaum, Joseph D. Terwilliger, Richard G. WeleberBrunhilde Wirth, Fulton Wong, Ronald G. Worton, Alan F. Wright

Ophthalmology

Research output: Contribution to journal › Article › peer-review

172 Scopus citations

Abstract

Multilocus linkage analysis of 62 family pedigrees with X chromosome-linked retinitis pigmentosa (XLRP) was undertaken to determine the presence of possible multiple disease loci and to reliably estimate their map location. Multilocus homogeneity tests furnished convincing evidence for the presence of two XLRP loci, the likelihood ratio being 6.4 x 109:1 in favor of two versus a single XLRP locus and gave accurate estimates for their map location. In 60-75% of the families, location of an XLRP gene was estimated at 1 centimorgan distal to OTC, and in 25-40% of the families, an XLRP locus was located halfway between DXS14 (p58-1) and DXZ1 (Xcen), with an estimated recombination fraction of 25% between the two XLRP loci. There is also good evidence for a third XLRP locus, midway between DXS28 (C7) and DXS164 (pERT87), supported by a likelihood ratio of 293:1 for three versus two XLRP loci.

Original language	English (US)
Pages (from-to)	701-704
Number of pages	4
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	87
Issue number	2
DOIs	https://doi.org/10.1073/pnas.87.2.701
State	Published - 1990

Keywords

Genetic linkage
Human gene mapping

ASJC Scopus subject areas

General

Access to Document

10.1073/pnas.87.2.701

Cite this

Ott, J., Bhattacharya, S., Chen, J. D., Denton, M. J., Donald, J., Dubay, C., Farrar, G. J., Fishman, G. A., Frey, D., Gal, A., Humphries, P., Jay, B., Jay, M., Litt, M., Mächler, M., Musarella, M., Neugebauer, M., Nussbaum, R. L., Terwilliger, J. D., ... Wright, A. F. (1990). Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proceedings of the National Academy of Sciences of the United States of America, 87(2), 701-704. https://doi.org/10.1073/pnas.87.2.701

Ott, J, Bhattacharya, S, Chen, JD, Denton, MJ, Donald, J, Dubay, C, Farrar, GJ, Fishman, GA, Frey, D, Gal, A, Humphries, P, Jay, B, Jay, M, Litt, M, Mächler, M, Musarella, M, Neugebauer, M, Nussbaum, RL, Terwilliger, JD, Weleber, RG, Wirth, B, Wong, F, Worton, RG & Wright, AF 1990, 'Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests', Proceedings of the National Academy of Sciences of the United States of America, vol. 87, no. 2, pp. 701-704. https://doi.org/10.1073/pnas.87.2.701

@article{f5ca545c7625415cbf7dc7dd860aca3d,

title = "Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests",

abstract = "Multilocus linkage analysis of 62 family pedigrees with X chromosome-linked retinitis pigmentosa (XLRP) was undertaken to determine the presence of possible multiple disease loci and to reliably estimate their map location. Multilocus homogeneity tests furnished convincing evidence for the presence of two XLRP loci, the likelihood ratio being 6.4 x 109:1 in favor of two versus a single XLRP locus and gave accurate estimates for their map location. In 60-75% of the families, location of an XLRP gene was estimated at 1 centimorgan distal to OTC, and in 25-40% of the families, an XLRP locus was located halfway between DXS14 (p58-1) and DXZ1 (Xcen), with an estimated recombination fraction of 25% between the two XLRP loci. There is also good evidence for a third XLRP locus, midway between DXS28 (C7) and DXS164 (pERT87), supported by a likelihood ratio of 293:1 for three versus two XLRP loci.",

keywords = "Genetic linkage, Human gene mapping",

author = "Jurg Ott and Shomi Bhattacharya and Chen, {J. D.} and Denton, {Michael J.} and Jenny Donald and Christopher Dubay and Farrar, {G. Jane} and Fishman, {Gerald A.} and Daniel Frey and Andreas Gal and Pete Humphries and B. Jay and Marcelle Jay and Michael Litt and Marco M{\"a}chler and Maria Musarella and Meinhard Neugebauer and Nussbaum, {Robert L.} and Terwilliger, {Joseph D.} and Weleber, {Richard G.} and Brunhilde Wirth and Fulton Wong and Worton, {Ronald G.} and Wright, {Alan F.}",

year = "1990",

doi = "10.1073/pnas.87.2.701",

language = "English (US)",

volume = "87",

pages = "701--704",

journal = "Proceedings of the National Academy of Sciences of the United States of America",

issn = "0027-8424",

publisher = "National Academy of Sciences",

number = "2",

}

TY - JOUR

T1 - Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

AU - Ott, Jurg

AU - Bhattacharya, Shomi

AU - Chen, J. D.

AU - Denton, Michael J.

AU - Donald, Jenny

AU - Dubay, Christopher

AU - Farrar, G. Jane

AU - Fishman, Gerald A.

AU - Frey, Daniel

AU - Gal, Andreas

AU - Humphries, Pete

AU - Jay, B.

AU - Jay, Marcelle

AU - Litt, Michael

AU - Mächler, Marco

AU - Musarella, Maria

AU - Neugebauer, Meinhard

AU - Nussbaum, Robert L.

AU - Terwilliger, Joseph D.

AU - Weleber, Richard G.

AU - Wirth, Brunhilde

AU - Wong, Fulton

AU - Worton, Ronald G.

AU - Wright, Alan F.

PY - 1990

Y1 - 1990

N2 - Multilocus linkage analysis of 62 family pedigrees with X chromosome-linked retinitis pigmentosa (XLRP) was undertaken to determine the presence of possible multiple disease loci and to reliably estimate their map location. Multilocus homogeneity tests furnished convincing evidence for the presence of two XLRP loci, the likelihood ratio being 6.4 x 109:1 in favor of two versus a single XLRP locus and gave accurate estimates for their map location. In 60-75% of the families, location of an XLRP gene was estimated at 1 centimorgan distal to OTC, and in 25-40% of the families, an XLRP locus was located halfway between DXS14 (p58-1) and DXZ1 (Xcen), with an estimated recombination fraction of 25% between the two XLRP loci. There is also good evidence for a third XLRP locus, midway between DXS28 (C7) and DXS164 (pERT87), supported by a likelihood ratio of 293:1 for three versus two XLRP loci.

AB - Multilocus linkage analysis of 62 family pedigrees with X chromosome-linked retinitis pigmentosa (XLRP) was undertaken to determine the presence of possible multiple disease loci and to reliably estimate their map location. Multilocus homogeneity tests furnished convincing evidence for the presence of two XLRP loci, the likelihood ratio being 6.4 x 109:1 in favor of two versus a single XLRP locus and gave accurate estimates for their map location. In 60-75% of the families, location of an XLRP gene was estimated at 1 centimorgan distal to OTC, and in 25-40% of the families, an XLRP locus was located halfway between DXS14 (p58-1) and DXZ1 (Xcen), with an estimated recombination fraction of 25% between the two XLRP loci. There is also good evidence for a third XLRP locus, midway between DXS28 (C7) and DXS164 (pERT87), supported by a likelihood ratio of 293:1 for three versus two XLRP loci.

KW - Genetic linkage

KW - Human gene mapping

UR - http://www.scopus.com/inward/record.url?scp=0025190712&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025190712&partnerID=8YFLogxK

U2 - 10.1073/pnas.87.2.701

DO - 10.1073/pnas.87.2.701

M3 - Article

C2 - 2300556

AN - SCOPUS:0025190712

SN - 0027-8424

VL - 87

SP - 701

EP - 704

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

IS - 2

ER -

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this