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(Stroke. 2000;31:930.)
© 2000 American Heart Association, Inc.

Original Contributions

Linkage of Familial Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis) to Chromosome 17q25

Tohru Yamauchi, MD; Mitsuhiro Tada, MD; Kiyohiro Houkin, MD; Toshihiro Tanaka, MD; Yusuke Nakamura, MD; Satoshi Kuroda, MD; Hiroshi Abe, MD; Takuya Inoue, MD; Kiyonobu Ikezaki, MD; Toshio Matsushima, MD Masashi Fukui, MD

From the Section of Neurosurgery, Department of Neuropathophysiology (T.Y, M.T., K.H., S.K., H.A.), and Division of Cell Biology, Cancer Institute (M.T.), Hokkaido University School of Medicine, Sapporo, Japan; Laboratory of Molecular Medicine (T.T., Y.N.), Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; and Department of Neurosurgery (T.I., K.I., T.M., M.F.), Neurological Institute, Faculty of Medicine, Kyusyu University, Fukuoka, Japan

Correspondence to Mitsuhiro Tada, MD, Division of Cell Biology, Cancer Institute, Hokkaido University School of Medicine, North 15 West 7 Kita-Ku, Sapporo, 060-8638 Japan. E-mail m_tada{at}med.hokudai.ac.jp

Background and Purpose—Moyamoya disease is a cerebrovascular disease of unknown cause that mainly affects Japanese children. The incidence of familial occurrence accounts for 9% of cases. The characteristic lesions of moyamoya disease are occasionally seen in neurofibromatosis type 1, of which the causative gene (NF1) has been assigned to chromosome 17q11.2.

Methods—To determine whether a gene related to moyamoya disease is located on chromosome 17, we conducted microsatellite linkage analyses on 24 families containing 56 patients with moyamoya disease. Leukocyte DNA extracted from the family members was subjected to polymerase chain reaction for a total of 22 microsatellite markers on chromosome 17. The amplified polymerase chain reaction fragments were analyzed with GeneScan on an automated sequencer.

Results—Two-point linkage analysis gave a maximum log₁₀ odds (LOD) score of 3.11 at the recombination fraction of 0.00 for the marker at locus D17S939. The affected pedigree member method also showed a significantly low P value (<1.0x10^-5) for the 5 adjacent markers at 17q25. Multipoint linkage analysis also indicated that the disease gene is contained within the 9-cM region of D17S785 to D17S836, with a maximum LOD score of 4.58.

Conclusions—A gene for familial moyamoya disease is located on chromosome 17q25.

Key Words: child • genetics • moyamoya disease

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