モヤモヤ病の遺伝子解析

1.在Moyamoya病影响的第19个家族中，血液样本来自该家族的所有成员。在使用聚合酶链反应的情况下，微细胞标记物的第六代染色体被放大。分享的留言板在受影响的成员中被调查，并考虑到他们的发型。标签：D 6S 441与莫亚莫亚病有可能的联系因此，在D 6S 441周围，Moyamoya病的负责任基因可能被定位。另一家研究所分析和报告称，3型染色体与莫亚病有关。根据临床遗传学，莫亚莫亚疾病显示了多重遗传学。进一步的分析可能会显示其他地区与莫亚疾病的联系。Polymorphisms of TGFB1 and TGFBR2 genesRecent studies have shown increased production of serum transforming growth factor （TGF）。TGF-β信号系统已被建议与Moyamoya病的病理学有关。我们分析了61名Moyamoya患者中TGFB 1和TGFBR 2基因的多态性。我们的研究表明，Moyamoya疾病和TGFB 1/TGFBR 2基因的多分子之间没有关联。因此，这可能会增加血清和血管光滑的肌肉细胞中的TGFβ1不是主要的，但次要的事件在Moyamoya疾病。列宁-血管紧张素系统：列宁、血管紧张素I和血管紧张素II在48名莫亚患者中被调查。我的血管紧张素水平被市场地提升到病人身上。这并不清楚，无论它是初级还是中级。需要进行进一步的调查，以澄清事实。

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.