Linkage analysis of moyamoya disease on chromosome 6

Genetic factors have been suggested to contribute to the etiology of moyamo ya disease. The authors have previously reported an association between moy amoya disease and several alleles for human leukocyte antigens (HLA). To fu rther specify the genetic component of moyamoya disease, a linkage study of moyamoya disease using markers on chromosome 6, where the HLA gene is loca ted, was performed. The 15 microsatellite markers of chromosome 6 were stud ied in 20 affected sibling pairs. From an identical-by-descent analysis of these markers, an allele with possible linkage to moyamoya disease was iden tified. Sharing of the allele among affected members in 19 families was inv estigated, considering the haplotype. The marker, D6S441, might be linked t o moyamoya disease. Considering the haplotype, the allele was shared among the affected members in 16 (82%) of the 19 families, but not in two others. In one family, sharing of the allele could not be determined because of lo w heterozygosity. Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease.