[Procedure and initial results of presymptomatic DNA studies in Huntington's chorea].
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.
Roos
R A
RA
Afd. Neurologie, Academisch Ziekenhuis, Leiden.
Vegter-van der Vlis
M
M
Tibben
A
A
Skraastad
M I
MI
Pearson
P L
PL
D000293:Adolescent; D000328:Adult; D004247:DNA / Q000032:analysis*; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers / Q000032:analysis; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015203:Reproducibility of Results
D005819:Genetic Markers; D004247:DNA
Procedure en eerste resultaten van presymptomatisch DNA-onderzoek bij de chorea van Huntington.