モヤモヤ病の遺伝子解析

Linkage studyIn the 19th families affected by moyamoya disease，blood samples was obtained from the family. Microsatellite markers on the 6thchromosome were amplified by using polymerase chain reaction. Sharing of the allele was investigatedaffected members, considering the haplotype. the marker，D6S441 had a possible linkage with moyamoya disease. Thus, around the D6S441responsible gene for moyamoya disease might be located. Another institute分析和报告chromosome 3 was linked to moyamoya disease. According to clinical geneticsmoyamoya疾病shows multifactorial inheritance. Further analysis might show other region linkedto moyamoya disease.2. Polymorphisms of TGFB1 and TGFBR 2 genesRecent studies have increasedproduction of serum transforming growth factor (TGF)β - D21 - D2 and its mRNA level from culturedsmooth muscle cells in patients with Moyamoya disease. TGF-β信号系统has been suggested tobe associated with the pathogenesis of Moyamoya disease. We analyzed the polymorphisms of TGFB1 andTGFBR 2 genes in 61 Moyamoya patients. Our study has shown that there were no associations betweenMoyamoya disease and polymorphisms of TGFB1/TGFBR 2 genes. Thus，这是一个likely that increases of TGFβ1 in serum and vascular smooth muscle cells not primary butsecondary events in Moyamoya disease.3. renin -angiotensin systemThe plasma level of renin，angiotensin i,angiotensin II investigated in 48 Moyamoya patients. The level of angiotensin I wasmarkedly elevated in the patients.这并不干净，因为这个increase是主要的还是次要的。Further investigation is needed to clarify the fact。

1. Linkage studyIn the 19th families affected by moyamoya disease, blood samples was obtained from all members of the family. Microsatellite markers on the 6th chromosome were amplified by using polymerase chain reaction. Sharing of the allele was investigated among affected members, considering the haplotype. The marker, D6S441 had a possible linkage with moyamoya disease. Thus, around the D6S441, responsible gene for moyamoya disease might be located. Another institute analyzed and reported that chromosome 3 was linked to moyamoya disease. According to clinical genetics, moyamoya disease shows multifactorial inheritance. Further analysis might show other region linked to moyamoya disease.2. Polymorphisms of TGFB1 and TGFBR 2 genesRecent studies have shown increased production of serum transforming growth factor (TGF)βィイD21ィエD2 and its mRNA level from cultured smooth muscle cells in patients with Moyamoya disease. TGF-β signaling system has been suggested to be associated with the pathogenesis of Moyamoya disease. We analyzed the polymorphisms of TGFB1 and TGFBR 2 genes in 61 Moyamoya patients. Our study has shown that there were no associations between Moyamoya disease and polymorphisms of TGFB1/TGFBR 2 genes. Thus, it is likely that increases of TGFβ1 in serum and vascular smooth muscle cells were not primary but secondary events in Moyamoya disease.3. Renin-angiotensin systemThe plasma levels of renin, angiotensin I, and angiotensin II were investigated in 48 Moyamoya patients. The level of angiotensin I was markedly elevated in the patients. It was not clear whether this increase was primary or secondary. Further investigation is needed to clarify the fact.