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J Med Genet. 1990 January; 27(1): 21–25.
PMCID: PMC1016874

Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.


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.

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Selected References

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  • Stefanini M, Lagomarsini P, Arlett CF, Marinoni S, Borrone C, Crovato F, Trevisan G, Cordone G, Nuzzo F. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum Genet. 1986 Oct;74(2):107–112. [PubMed]
  • Lehmann AR, Arlett CF, Broughton BC, Harcourt SA, Steingrimsdottir H, Stefanini M, Malcolm A, Taylor R, Natarajan AT, Green S, et al. Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light. Cancer Res. 1988 Nov 1;48(21):6090–6096. [PubMed]
  • Jung EG. Xeroderma pigmentosum. Int J Dermatol. 1986 Dec;25(10):629–633. [PubMed]
  • Ranzani GN, Brdicka R, Antonini G, Pardini R, Santachiara-Benerecetti AS. Electrophoretic subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in the Italian and Czechoslovakian populations. Hum Hered. 1985;35(5):273–278. [PubMed]
  • Crow JF, Mange AP. Measurement of inbreeding from the frequency of marriages between persons of the same surname. Eugen Q. 1965 Dec;12(4):199–203. [PubMed]
  • Zei G, Piazza A, Moroni A, Cavalli-Sforza LL. Surnames in Sardinia. III. The spatial distribution of surnames for testing neutrality of genes. Ann Hum Genet. 1986 May;50(Pt 2):169–180. [PubMed]
  • Nuzzo F, Stefanini M, Rocchi M, Casati A, Colognola R, Lagomarsini P, Marinoni S, Scozzari R. Chromosome and blood marker studies in families of patients affected by xeroderma pigmentosum and trichothiodystrophy. Mutat Res. 1988 Jul;208(3-4):159–161. [PubMed]
  • Lambert WC, Lambert MW. Co-recessive inheritance: a model for DNA repair, genetic disease and carcinogenesis. Mutat Res. 1985 May;145(3):227–234. [PubMed]

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