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 Weleber & 4 others Brunhilde Wirth, Fulton Wong, Ronald G. Worton, Alan F. Wright

Research output: Contribution to journalArticle

152 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)701-704
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume87
Issue number2
StatePublished - 1990

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Retinitis Pigmentosa
X Chromosome
Pedigree
Genetic Recombination

Keywords

  • Genetic linkage
  • Human gene mapping

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Ott, J., Bhattacharya, S., Chen, J. D., Denton, M. J., Donald, J., Dubay, C., ... 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.

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. / Ott, Jurg; Bhattacharya, Shomi; Chen, J. D.; Denton, Michael J.; Donald, Jenny; Dubay, Christopher; Farrar, G. Jane; Fishman, Gerald A.; Frey, Daniel; Gal, Andreas; Humphries, Pete; Jay, B.; Jay, Marcelle; Litt, Michael; Mächler, Marco; Musarella, Maria; Neugebauer, Meinhard; Nussbaum, Robert L.; Terwilliger, Joseph D.; Weleber, Richard; Wirth, Brunhilde; Wong, Fulton; Worton, Ronald G.; Wright, Alan F.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 87, No. 2, 1990, p. 701-704.

Research output: Contribution to journalArticle

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, R, 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.
Ott, Jurg ; Bhattacharya, Shomi ; Chen, J. D. ; Denton, Michael J. ; Donald, Jenny ; Dubay, Christopher ; Farrar, G. Jane ; Fishman, Gerald A. ; Frey, Daniel ; Gal, Andreas ; Humphries, Pete ; Jay, B. ; Jay, Marcelle ; Litt, Michael ; Mächler, Marco ; Musarella, Maria ; Neugebauer, Meinhard ; Nussbaum, Robert L. ; Terwilliger, Joseph D. ; Weleber, Richard ; Wirth, Brunhilde ; Wong, Fulton ; Worton, Ronald G. ; Wright, Alan F. / Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. In: Proceedings of the National Academy of Sciences of the United States of America. 1990 ; Vol. 87, No. 2. pp. 701-704.
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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.",
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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

AU - Wirth, Brunhilde

AU - Wong, Fulton

AU - Worton, Ronald G.

AU - Wright, Alan F.

PY - 1990

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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.

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