Molecular genetic approaches to the analysis of human ophthalmic disease

作者: David N Cooper , Marcelle Jay , Shomi Bhattacharya , Barrie Jay

DOI: 10.1038/EYE.1987.114

关键词: Molecular geneticsVisual pigmentsRetinoblastomaGyrate atrophyOphthalmologyDiseaseRetinitis pigmentosaOphthalmic diseaseMedicineBioinformatics

摘要: In this review of the recent literature, contribution that new techniques molecular genetics has made in analysis and diagnosis human ophthalmic conditions is presented discussed. Among disorders reviewed are X-linked retinitis pigmentosa, Norrie's disease, gyrate atrophy retinoblastoma, there also sections on crystallins visual pigments.

参考文章(166)
W. T. Schroeder, V. Riccardi, G. F. Saunders, Louise C Strong, S. Pathak, W. H. Lewis, L. Y. Chao, D. D. Dao, Nonrandom loss of maternal chromosome 11 alleles in Wilms' tumors American Journal of Human Genetics. ,vol. 40, pp. 413- 420 ,(1987)
P J Fialkow, A G Motulsky, E R Giblett, Measurable linkage between ocular albinism and Xg. American Journal of Human Genetics. ,vol. 19, pp. 63- 69 ,(1967)
J Piatigorsky, Gene expression and genetic engineering in the lens. Friedenwald lecture. Investigative Ophthalmology & Visual Science. ,vol. 28, pp. 9- 28 ,(1987)
M Leppert, G M Lathrop, J M Lalouel, K Thompson, P Callahan, R White, P O'Connell, T Holm, W Cavenee, A primary genetic map of chromosome 13q American Journal of Human Genetics. ,vol. 39, pp. 425- 437 ,(1986)
R A Lewis, R L Nussbaum, R Ferrell, J G Lesko, Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. American Journal of Human Genetics. ,vol. 37, pp. 473- 481 ,(1985)
R S Sparkes, C Heinzmann, J Horwitz, M B Gorin, C A Jones, T Mohandas, M L Law, J B Bateman, The gene for the major intrinsic protein (MIP) of the ocular lens is assigned to human chromosome 12cen-q14. Investigative Ophthalmology & Visual Science. ,vol. 27, pp. 1351- 1354 ,(1986)
Francke U, Distèche C, Pagon Ra, de Martinville B, Pearson Pl, Ochs Hd, van Ommen Gj, Hofker Mh, Lindgren, Giacalone J, Minor Xp21 chromosome deletion in a male associated with expression of duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome American Journal of Human Genetics. ,vol. 37, pp. 250- 267 ,(1985)
Uta Francke, Vincent M. Riccardi, Ann C. Smith, Eva Sujansky, Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics. ,vol. 61, pp. 604- 610 ,(1978)
R Weichselbaum, J Epstein, T P Dryja, J M Rapaport, W K Cavenee, A M Goorin, A Koufos, Chromosome 13 homozygosity in osteosarcoma without retinoblastoma. American Journal of Human Genetics. ,vol. 38, pp. 59- 66 ,(1986)