{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:11:11Z","timestamp":1760739071172,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,2]]},"abstract":"<jats:p>An Australian family is described in which a mild form of xeroderma pigmentosum (XP) is inherited as an autosomal dominant trait. Studies of lymphoblastoid cells and fibroblasts from affected persons demonstrated cellular sensitivity to ultraviolet (UV) light as judged by diminished clonogenicity and higher frequencies of UV induced chromosome aberrations compared to normal controls. After UV irradiation of dominant XP cells, replicative DNA synthesis was depressed to a greater extent than normal and the level of UV induced DNA repair synthesis was lower than that in normal cells. The level of sister chromatid exchanges and the numbers of 6-thioguanine resistant mutants induced by UV irradiation were equal to those found in normal controls. Although two subjects in the family had skin cancers, this dominant form of XP is not apparently associated with high risk, or large numbers, of skin cancers in affected persons.<\/jats:p>","DOI":"10.1136\/jmg.23.1.72","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"72-78","source":"Crossref","is-referenced-by-count":5,"title":["Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum."],"prefix":"10.1136","volume":"23","author":[{"given":"F P","family":"Imray","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Hockey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Relf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R G","family":"Ramsay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Kidson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,2,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Xeroderma pigmentosum","author":"Kraemer, K.H.","year":"1980","unstructured":"Kraemer KH. Xeroderma pigmentosum. In: Dermis DJ, Dobson RL, McGuire J, eds. Clinical dermatology. New York: Harper and Row, 1980:1-33."},{"key":"ref_2","first-page":"1415","article-title":"Cancer in families with xeroderma pigmentosum","volume":"62","author":"Swift, M.; Chase, C.","year":"1979","unstructured":"Swift M, Chase C. Cancer in families with xeroderma pigmentosum. J Natl Cancer Inst 1979;62:1415-26.","journal-title":"J Natl Cancer Inst"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1111\/j.1365-2133.1950.tb14345.x","article-title":"Xeroderma pigmentosum of mild type","volume":"62","author":"Anderson, T.E.; Begg, M.","year":"1950","unstructured":"Anderson TE, Begg, M. Xeroderma pigmentosum of mild type. Br J Dermatol Syph 1950;62:402-7.","journal-title":"Br J Dermatol Syph"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/274484a0","article-title":"Identification of ataxia telangiectasia heterozygotes: a cancer prone population","volume":"274","author":"Chen, P.C.; Lavin, M.F.; Kidson, C.; Moss, D.","year":"1978","unstructured":"Chen PC, Lavin MF, Kidson C, Moss D. Identification of ataxia telangiectasia heterozygotes: a cancer prone population. Nature 1978;274:484-6.","journal-title":"Nature"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/253461a0","article-title":"A simple cytochemical technique for demonstration of DNA in cells infected with mycoplasmas and viruses","volume":"253","author":"Russell, W.C.; Newman, C.; Williamson, D.H.","year":"1975","unstructured":"Russell WC, Newman C, Williamson DH. A simple cytochemical technique for demonstration of DNA in cells infected with mycoplasmas and viruses. 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Nature 1974;251:156-8.","journal-title":"Nature"},{"key":"ref_8","first-page":"6617","article-title":"T-ccll cloning to detect the mutant 6-thioguanine-resistant lymphocytes present","volume-title":"human peripheral blood. Proc Natl Acad Sci","volume":"79","author":"Albertini, R.J.; Castle, K.L.; Borcherding, W.R.","year":"1982","unstructured":"Albertini RJ, Castle KL, Borcherding WR. T-ccll cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood. Proc Natl Acad Sci USA 1982;79:6617-21."},{"issue":"53","key":"ref_9","first-page":"691","article-title":"Xeroderma pigmentosum long-term lymphoid lincs with incrcased ultraviolet sensitivity","volume":"1974","author":"Andrews, A.D.; JiH, Robbins; Kraemer, K.H.; Buell, D.N.","unstructured":"Andrews AD, Robbins JiH, Kraemer KH, Buell DN. Xeroderma pigmentosum long-term lymphoid lincs with incrcased ultraviolet sensitivity. 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