[No association between moyamoya disease and polymorphism of IGF2R].
Moyamoya disease is a cerebrovascular disorder of unknown etiology. Its high incidence in East Asia and accumulation in family members suggest a genetic background. A high incidence of maternal inheritance implicates genomic imprinting in this disorder. Based on this hypothesis, we studied the association between moyamoya disease and IGF2R gene on chromosome 6, but found no evidence for such association between them. On the other hand, heterogeneous expressions of IGF2R were confirmed in the lymphocytes. Some individuals showed monoallelic expression and others showed biallelic expression.
Yamamoto
Toshiyuki
T
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa. tyamamoto-jes@umin.ac.jp
Akasaka
Yuko
Y
Ohtani
Kyoichi
K
Hayashi
Takashi
T
Kashiwagi
Shiro
S
Ichiyama
Takashi
T
Nishikawa
Miki
M
Kato
Mitsuhiro
M
Maegaki
Yoshihiro
Y
Oka
Akira
A
Ohno
Kousaku
K
D000328:Adult; D000483:Alleles; D002648:Child; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D008297:Male; D009072:Moyamoya Disease / Q000235:genetics*; D011110:Polymorphism, Genetic; D017527:Receptor, IGF Type 2 / Q000235:genetics*
D017527:Receptor, IGF Type 2