{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:31:26Z","timestamp":1764783086149,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:p>The association of two rare hereditary disorders, trichothiodystrophy (TTD) and xeroderma pigmentosum (XP), was found in four patients from three families, apparently unrelated but living in the same geographical area. In order to test the hypothesis of a common ancestor, consanguinity within and among the families was checked using three different approaches: reconstruction of genealogical trees, typing of blood markers, and surname analysis. The results of the three types of analyses strengthen the hypothesis that, in at least two out of the three families, the genetic defect determining the TTD\/XP phenotype is identical by descent, as a consequence of remote inbreeding. This implies that if two mutations are responsible for the two diseases they are at linked loci or affect the same gene.<\/jats:p>","DOI":"10.1136\/jmg.27.1.21","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"21-25","source":"Crossref","is-referenced-by-count":13,"title":["Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum."],"prefix":"10.1136","volume":"27","author":[{"given":"F","family":"Nuzzo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Zei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Stefanini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Colognola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A S","family":"Santachiara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Lagomarsini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Marinoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Salvaneschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00282072","article-title":"Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity","volume":"74","author":"Stefanini, M.; Lagomarsini, P.; Arlett, C.F.","year":"1986","unstructured":"Stefanini M, Lagomarsini P, Arlett CF, et al. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum Genet 1986;74:107-12.","journal-title":"Hum Genet"},{"key":"ref_2","article-title":"Genetic analysis in trichothiodystrophy repair deficient cells confirms the occurrence of xeroderma pigmentosum group D mutation in unrelated patients","volume-title":"repair mechanisms and their biological implications in mammalian cells","author":"Stetanini, M.; Lagomarsini, P.; Nuzzo, F.","year":"1989","unstructured":"Stetanini M, Lagomarsini P, Nuzzo F. Genetic analysis in trichothiodystrophy repair deficient cells confirms the occurrence of xeroderma pigmentosum group D mutation in unrelated patients. In: Lambert MW, ed. DNA repair mechanisms and their biological implications in mammalian cells. New York: Plenum Press, 1989."},{"key":"ref_3","first-page":"6090","article-title":"Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light","volume":"48","author":"Lehmann, A.R.; Arlett, C.F.; Broughton, B.C.","year":"1988","unstructured":"Lehmann AR, Arlett CF, Broughton BC, et al. Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light. Cancer Res 1988;48:6090-6.","journal-title":"Cancer Res"},{"key":"ref_4","first-page":"1227","article-title":"Xeroderma pigmentosum","volume-title":"The metabolic basis of inherited disease","author":"Cleaver, J.E.","year":"1983","unstructured":"Cleaver JE. Xeroderma pigmentosum. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1983:1227-48."},{"key":"ref_5","first-page":"629","article-title":"Xeroderma pigmentosum. Int3r Dermatol","volume":"25","author":"Jung, E.G.","year":"1986","unstructured":"Jung EG. Xeroderma pigmentosum. Int3r Dermatol 1986;25:629-33."},{"key":"ref_6","article-title":"The distribution of the human blood groups and other polymorphisms","author":"Mourant, A.E.; Kopec, A.C.; Domaniewska-Sobczak, K.","year":"1976","unstructured":"Mourant AE, Kopec AC, Domaniewska-Sobczak K. The distribution of the human blood groups and other polymorphisms. London: Oxford University Press, 1976."},{"key":"ref_7","article-title":"La distribuzione di alcuni polimorfismi genetici in Italia","author":"Piazza, A.; Olivetti, E.; Carbonara, A.O.","year":"1982","unstructured":"Piazza A, Olivetti E, Carbonara AO, et al. La distribuzione di alcuni polimorfismi genetici in Italia. Milano: I1 Ponte, 1982."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1159\/000153561","article-title":"Electrophoretic subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in the Italian and Czechoslovakian populations","volume":"35","author":"Ranzani, G.N.; Bordicka, R.; Antonini, G.","year":"1985","unstructured":"Ranzani GN, Bordicka R, Antonini G, et al. Electrophoretic subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in the Italian and Czechoslovakian populations. Hum Hered 1985;35:273-8.","journal-title":"Hum Hered"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0047-2484(84)80039-1","article-title":"Alpha-l-antitrypsin in Italy: absence of a North to South cline of frequencies","volume":"13","author":"Pascali, V.L.; Massa, G.","year":"1984","unstructured":"Pascali VL, Massa G. Alpha-l-antitrypsin in Italy: absence of a North to South cline of frequencies. 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Ann Hum Genet 1986;50:169-80.","journal-title":"Ann Hum Genet"},{"key":"ref_12","first-page":"209","article-title":"the conference on Surnames as markers of inbreeding and migration. Arranged by Gottlieb BK","volume":"55","author":"Proceedings of","year":"1983","unstructured":"Proceedings of the conference on Surnames as markers of inbreeding and migration. Arranged by Gottlieb BK. Hum Biol 1983;55:209-408.","journal-title":"Hum Biol"},{"key":"ref_13","article-title":"Dizionario dei cognomi italiani","author":"M, De Felice","year":"1978","unstructured":"De Felice M. Dizionario dei cognomi italiani. Milano: Arnoldo Mondadori, 1978."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/0165-7992(88)90053-X","article-title":"Chromosome and blood markers study in families of patients affected by xeroderma pigmentosum and trichothiodystrophy","volume":"208","author":"Nuzzo, F.; Stefanini, M.; Rocchi, M.","year":"1988","unstructured":"Nuzzo F, Stefanini M, Rocchi M, et al. Chromosome and blood markers study in families of patients affected by xeroderma pigmentosum and trichothiodystrophy. 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