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

Publication ,  Journal Article
Ott, J; Bhattacharya, S; Chen, JD; Denton, MJ; Donald, J; Dubay, C; Farrar, GJ; Fishman, GA; Frey, D; Gal, A
Published in: Proc Natl Acad Sci U S A
January 1990
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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 10(9):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.

Duke Scholars

Fulton Wong
Author Fulton Wong Ophthalmology
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Published In

Proc Natl Acad Sci U S A

DOI

10.1073/pnas.87.2.701

ISSN

0027-8424

Publication Date

January 1990

Volume

87

Issue

2

Start / End Page

701 / 704

Location

United States

Related Subject Headings

  • X Chromosome
  • Retinitis Pigmentosa
  • Recombination, Genetic
  • Models, Genetic
  • Humans
  • Genetic Markers
  • Genetic Linkage
  • Chromosome Mapping
 

Citation

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Ott, J., Bhattacharya, S., Chen, J. D., Denton, M. J., Donald, J., Dubay, C., … Gal, A. (1990). Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A, 87(2), 701–704. https://doi.org/10.1073/pnas.87.2.701
Ott, J., S. Bhattacharya, J. D. Chen, M. J. Denton, J. Donald, C. Dubay, G. J. Farrar, G. A. Fishman, D. Frey, and A. Gal. “Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.” Proc Natl Acad Sci U S A 87, no. 2 (January 1990): 701–4. https://doi.org/10.1073/pnas.87.2.701.
Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, et al. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A. 1990 Jan;87(2):701–4.
Ott, J., et al. “Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.” Proc Natl Acad Sci U S A, vol. 87, no. 2, Jan. 1990, pp. 701–04. Pubmed, doi: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. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A. 1990 Jan;87(2):701–704.
Journal cover image

Published In

Proc Natl Acad Sci U S A

DOI

10.1073/pnas.87.2.701

ISSN

0027-8424

Publication Date

January 1990

Volume

87

Issue

2

Start / End Page

701 / 704

Location

United States

Related Subject Headings

  • X Chromosome
  • Retinitis Pigmentosa
  • Recombination, Genetic
  • Models, Genetic
  • Humans
  • Genetic Markers
  • Genetic Linkage
  • Chromosome Mapping