Microsatellite linkage analysis for determination of disease locus of Moyamoya disease.

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We have applied microsatellite linkage analysis on a total of 6 pedigrees and24 affected sib-pairs of familial Moyamoya disease in order to determine the disease locus. To narrow search regions, we focused on chromosome 17 where the gene for neurofibromatosis type I that occasionally associates with Moyamoya disease is located, and on chromosome 19 where the gene for familial hemiplegic migraine (FHM) and CADASIL is located. PCR amplified microsatellite markers of each individual were analysed on an automated sequencer with the GeneScan analysis software. A positive linkage was found on chromosome 17q25-ter region, demonstrating a maximum LOD score of 3.11 by the two-point linkage analysis at a marker D17S939. Affected pedigree member method also showed p value less than 10-5 for 4 markers around D17S939.In one pedigree in which patients presented with migraine, linkage was not observed with markers adjacent to FHM/CADASIL genes on chromosome 19pl3 but not with chromosome 17, suggesting the presence of distinct gene for Moyamoya disease on chromosome l9p.