Method for the indirect genotypic diagnosis of cadasil

摘要

The method for the indirect genotypic diagnosis of CADASIL for symptomatic or at risk individuals or fetuses belonging to a family suspected or known to be affected by CADASIL, comprises the use of markers genetically linked to the mutated gene responsible for CADASIL in order to detect whether or not the tested individual is carrying the chromosome 19 markers alleles that has been linked to the disease gene in this given family and to estimate his carrier risk, the method being based on the localization of the gene in the interval of 2 cM spanned by the flanking markers D19S226 and D19S199 and in that one uses at least two markers located each on one side of the gene.