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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Sep;45(3):401–411.

Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.

J D Chen 1, F Halliday 1, G Keith 1, L Sheffield 1, P Dickinson 1, R Gray 1, I Constable 1, M Denton 1
PMCID: PMC1683416  PMID: 2570529

Abstract

In nine families in which X-linked retinitis pigmentosa (XLRP) is segregating, the lod scores of XLRP in a map of 10 RFLP loci were obtained by multipoint linkage analysis. The XLRP locus was located telomeric to DXS7 in seven of the families and centromeric to DXS7 in two of the families. Under the hypothesis of two XLRP loci, a heterogeneity (admixture) test was performed, providing significant evidence of heterogeneity in XLRP (P less than .01). No correlation was detected between the clinical manifestations of XLRP and the two different disease loci.

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Selected References

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  1. Bhattacharya S. S., Wright A. F., Clayton J. F., Price W. H., Phillips C. I., McKeown C. M., Jay M., Bird A. C., Pearson P. L., Southern E. M. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984 May 17;309(5965):253–255. doi: 10.1038/309253a0. [DOI] [PubMed] [Google Scholar]
  2. Bird A. C. X-linked retinitis pigmentosa. Br J Ophthalmol. 1975 Apr;59(4):177–199. doi: 10.1136/bjo.59.4.177. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Chen J. D., Halliday F., Serravalle S., Denton M. Localization of the X-linked retinitis pigmentosa locus between DXS7 and DXS84 in a family showing tapetal reflex in heterozygotes. Ophthalmic Paediatr Genet. 1988 Nov;9(3):143–147. doi: 10.3109/13816818809031490. [DOI] [PubMed] [Google Scholar]
  4. Chen J. D., Hejtmancik J. F., Romeo G., Lindlof M., Boehm C., Caskey C. T., Kress W., Fischbeck K. H., Dreier M., Serravalle S. A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus. Genomics. 1989 Jan;4(1):105–109. doi: 10.1016/0888-7543(89)90322-4. [DOI] [PubMed] [Google Scholar]
  5. Denton M. J., Chen J. D., Serravalle S., Colley P., Halliday F. B., Donald J. Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7. Hum Genet. 1988 Jan;78(1):60–64. doi: 10.1007/BF00291236. [DOI] [PubMed] [Google Scholar]
  6. Drayna D., White R. The genetic linkage map of the human X chromosome. Science. 1985 Nov 15;230(4727):753–758. doi: 10.1126/science.4059909. [DOI] [PubMed] [Google Scholar]
  7. Francke U., Harper J. F., Darras B. T., Cowan J. M., McCabe E. R., Kohlschütter A., Seltzer W. K., Saito F., Goto J., Harpey J. P. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet. 1987 Mar;40(3):212–227. [PMC free article] [PubMed] [Google Scholar]
  8. Francke U., Ochs H. D., de Martinville B., Giacalone J., Lindgren V., Distèche C., Pagon R. A., Hofker M. H., van Ommen G. J., Pearson P. L. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985 Mar;37(2):250–267. [PMC free article] [PubMed] [Google Scholar]
  9. Friedrich U., Warburg M., Wieacker P., Wienker T. F., Gal A., Ropers H. H. X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum Genet. 1985;71(2):93–99. doi: 10.1007/BF00283360. [DOI] [PubMed] [Google Scholar]
  10. Goodfellow P. N., Davies K. E., Ropers H. H. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet. 1985;40(1-4):296–352. doi: 10.1159/000132178. [DOI] [PubMed] [Google Scholar]
  11. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Musarella M. A., Burghes A., Anson-Cartwright L., Mahtani M. M., Argonza R., Tsui L. C., Worton R. Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet. 1988 Oct;43(4):484–494. [PMC free article] [PubMed] [Google Scholar]
  13. Nussbaum R. L., Lewis R. A., Lesko J. G., Ferrell R. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet. 1985;70(1):45–50. doi: 10.1007/BF00389458. [DOI] [PubMed] [Google Scholar]
  14. Ott J., Mensink E. J., Thompson A., Schot J. D., Schuurman R. K. Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci. Hum Genet. 1986 Nov;74(3):280–283. doi: 10.1007/BF00282549. [DOI] [PubMed] [Google Scholar]
  15. SMITH C. A. TESTING FOR HETEROGENEITY OF RECOMBINATION FRACTION VALUES IN HUMAN GENETICS. Ann Hum Genet. 1963 Nov;27:175–182. doi: 10.1111/j.1469-1809.1963.tb00210.x. [DOI] [PubMed] [Google Scholar]
  16. Wirth B., Denton M. J., Chen J. D., Neugebauer M., Halliday F. B., van Schooneveld M., Donald J., Bleeker-Wagemakers E. M., Pearson P. L., Gal A. Two different genes for X-linked retinitis pigmentosa. Genomics. 1988 Apr;2(3):263–266. doi: 10.1016/0888-7543(88)90011-0. [DOI] [PubMed] [Google Scholar]
  17. Wright A. F., Bhattacharya S. S., Clayton J. F., Dempster M., Tippett P., McKeown C. M., Jay M., Jay B., Bird A. C. Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. Am J Hum Genet. 1987 Oct;41(4):635–644. [PMC free article] [PubMed] [Google Scholar]
  18. Wright A. F., Bhattacharya S., Price W. H., Phillips C. I., McKeown C., Crews S. J., Jay M., Bird A. C. DNA probes in X-linked retinitis pigmentosa. Trans Ophthalmol Soc U K. 1983;103(Pt 4):467–474. [PubMed] [Google Scholar]
  19. de Saint-Basile G., Bohler M. C., Fischer A., Cartron J., Dufier J. L., Griscelli C., Orkin S. H. Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum Genet. 1988 Sep;80(1):85–89. doi: 10.1007/BF00451463. [DOI] [PubMed] [Google Scholar]
  20. van Ommen G. J., Verkerk J. M., Hofker M. H., Monaco A. P., Kunkel L. M., Ray P., Worton R., Wieringa B., Bakker E., Pearson P. L. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell. 1986 Nov 21;47(4):499–504. doi: 10.1016/0092-8674(86)90614-8. [DOI] [PubMed] [Google Scholar]

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