PubMed · 3775361
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G Kolata. 1986-11-07. Two disease-causing genes found.. https://doi.org/10.1126/science.3775361
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Retinoblastoma tumor formation is initiated by loss of function of both alleles at the RB1 locus on chromosome 13. In nonhereditary retinoblastoma (60% of patients), both mutations occur during retinal development. In hereditary retinoblastoma (40% of patients), tumor formation is caused by one germline and one somatic mutation. The RB1 gene encodes a nuclear protein that arrests progression through the G1 phase of the cell cycle. In the absence of intact RB1 protein, unscheduled cell proliferation occurs. Genes on chromosomes 1 and 6, which have not yet been identified, appear to be involved in later stages of tumorigenesis.
Family, twin, and adoption studies suggest that genetic factors play an important role in the etiology of schizophrenia. Detection of single gene(s) involved in a higher susceptibility to a hereditary disease is possible with linkage analysis. The effects of serotonin2-receptor antagonists on symptoms of schizophrenia suggest that a mutation in the gene coding for this receptor subtype might be involved in the pathophysiology of this disease. Recently a copy DNA encoding the serotonin 5-HT2 receptor has been isolated and with a human 5-HT2 receptor copy DNA probe the HTR2 locus has been mapped to chromosome 13. Using multipoint linkage analysis between schizophrenia and genetic markers spanning the region of the HTR2 locus, we were able to exclude linkage between this candidate gene and schizophrenia in a Swedish kindred. Given this result, we conclude that the serotonin 5-HT2 receptor gene itself is not a major susceptibility gene for schizophrenia in this family.
Investigation using DNA markers in a family with Wilson disease revealed that an apparently normal child of 10 years of age with non-diagnostic copper biochemistry had the disease. The procedure used linked restriction fragment length polymorphic markers. Demonstration of increased liver copper concentration from a liver biopsy confirmed the diagnosis and the child was started on chelation therapy. Two other asymptomatic siblings were shown, using the same techniques, not to have the disease. Similar analysis was carried out on another family with just one index case.