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Linkage studies and deletion screening in choroideremia

Autor: Barrie Jay, R L Nussbaum, S. S. Bhattacharya, A F Wright, H. J. Evans, J G Lesko, Marcelle Jay

Publikováno v: Journal of medical genetics. 27(8)

Fourteen families with choroideremia (TCD) have been examined for linkage to nine genetic markers located on the proximal long arm of the X chromosome. Linkage to three markers (DXYS1, DXS72, DXS3) located in Xq21 was found with a four point lod scor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a5f2ce974169765b731f88f8e190d82
https://pubmed.ncbi.nlm.nih.gov/1976814

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Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression

Autor: R L, Nussbaum, R M, Walmsley, J G, Lesko, S D, Airhart, D H, Ledbetter

Publikováno v: American journal of human genetics. 37(6)

Chinese hamster lung (CHL) V79 cells already deficient in hypoxanthine phosphoribosyltransferase were exposed to uv light and selected for mutations causing deficiency of thymidylate synthase (TS) by their resistance to aminopterin in the presence of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::25e6adc80e4d905caf501954d87939da
https://pubmed.ncbi.nlm.nih.gov/3002173

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Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21

Autor: R L, Nussbaum, R A, Lewis, J G, Lesko, R, Ferrell

Publikováno v: American journal of human genetics. 37(3)

Choroideremia (McK30310), an X-linked hereditary retinal dystrophy, causes night-blindness, progressive peripheral visual field loss, and, ultimately, central blindness in affected males. The location of choroideremia on the X chromosome is unknown.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b1b0207d65f8f182e34b933676d71121
https://pubmed.ncbi.nlm.nih.gov/2988333

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Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21

Autor: D E, Merry, J G, Lesko, D M, Sosnoski, R A, Lewis, M, Lubinsky, B, Trask, G, van den Engh, F S, Collins, R L, Nussbaum

Publikováno v: American journal of human genetics. 45(4)

The study of contiguous gene deletion syndromes by using reverse genetic techniques provides a powerful tool for precisely defining the map location of the genes involved. We have made use of individuals with overlapping deletions producing choroider

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::783f141e14e03a46d8856b99436c41b0
https://pubmed.ncbi.nlm.nih.gov/2491012

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