Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum
| Autor: | A S Santachiara, R. Colognola, F Nuzzo, Miria Stefanini, L Salvaneschi, P. Lagomarsini, G Zei, S. Marinoni |
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| Rok vydání: | 1990 |
| Předmět: |
Male
Xeroderma pigmentosum DNA Repair Genetic Linkage Trichothiodystrophy Consanguinity Biology Identity by descent Genetic linkage Intellectual Disability Genetics medicine Humans Child Genetics (clinical) Xeroderma Pigmentosum Ichthyosis medicine.disease Phenotype Pedigree Italy Blood Group Antigens Female Hair Diseases Inbreeding Research Article |
| Zdroj: | Journal of medical genetics. 27(1) |
| ISSN: | 0022-2593 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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