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  • Title: Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
    Author: Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E.
    Journal: Lancet; 1989 Aug 12; 2(8659):349-52. PubMed ID: 2569551.
    Abstract:
    The polymerase chain reaction was used to detect four mutations in the DNA of 47 unrelated patients with type I Gaucher's disease (94 Gaucher's disease alleles). Two of the mutations, 1226 and 1448, and a new mutation (XOVR) representing cross-over between the glucocerebrosidase gene and its closely linked pseudogene, were found. There were five genotypes--namely, 1226/1226, 1226/1448, 1226/XOVR, 1226/?, and ?/? (where "?" indicates that none of the four known mutations was present). Severity of the disease was assessed with a scoring index according to age at diagnosis and extent of organ involvement. Mutation 1226 was associated with a mild clinical phenotype, and mutation 1448 with a more severe phenotype. Mutation 1226 is the most common cause of Gaucher's disease in Jewish patients.
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