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[Procedure and initial results of presymptomatic DNA studies in Huntington's chorea].

作者信息

Roos R A, Vegter-van der Vlis M, Tibben A, Skraastad M I, Pearson P L

机构信息

Afd. Neurologie, Academisch Ziekenhuis, Leiden.

出版信息

Ned Tijdschr Geneeskd. 1990 Apr 7;134(14):704-7.

PMID:2139182
Abstract

The availability of DNA-markers more tightly linked to the Huntington's disease locus made presymptomatic and exclusion testing possible with an accuracy of up to 98%. The testing programme started in Leiden in August 1987. In 56 adults with 25% and 50% risks presymptomatic tests were performed. In 8 persons the risk was increased to 98%, in 17 it was decreased to less than 5%. In two instances the test was not informative. The remaining 29 persons have not yet been tested for different reasons. So far 3 exclusion tests were requested: one showed a decreased risk, one has not yet been performed and one request was rejected. The results and the reactions to the test are discussed.

摘要

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