论文部分内容阅读
目的探讨国人环指蛋白213基因c.14576G>A位点基因型与烟雾病表型的关系。方法前瞻性纳入33例烟雾病患者,对环指蛋白213基因c.14576G>A位点基因型进行检测,然后按基因型分为基因突变型组和野生型组,分析基因型与临床表型、血管表型的关系。结果两组患者在性别、脑血管危险因素(包括高血压、糖尿病、高血脂、吸烟、饮酒)、家族史、症状性患者比例方面的差异无统计学意义(P均>0.05);两组中症状性烟雾病患者的临床表型(包括首发年龄、首发症状及入院NIHSS评分、BI、mRS评分)比较,差异亦无统计学意义(P>0.05);在血管表型方面,杂合子突变组、野生基因组合并大脑后动脉受累者分别为66.7%(4/6)和7.4%(2/27),差异有统计学意义(χ~2=7.947,P=0.005);两组铃木分期平均为4.0±0.0、2.9±0.7,差异有统计学意义(P=0.005),而两组在血管单双侧分布、一级和二级侧枝循环开放的差异无统计学意义(P均>0.05)。结论环指蛋白213基因c.14576G>A杂合子突变型与野生基因型临床表型相似;杂合子突变型相比野生基因型更容易合并大脑后动脉受累、铃木分期更高。
Objective To investigate the relationship between the genotype of c.14576G> A locus and the phenotype of moyamoya disease in Chinese ring finger protein 213 gene. Methods A total of 33 patients with moyamoya disease were prospectively enrolled in this study. Genotypes of c.14576G> A locus of ring finger protein 213 gene were detected. Genotypes were divided into gene mutant group and wild type group, genotype and clinical phenotype , Vascular phenotype relationship. Results There was no significant difference in gender, cerebrovascular risk factors (including hypertension, diabetes, hyperlipidemia, smoking, drinking), family history and the proportion of symptomatic patients between the two groups (all P> 0.05) There was no significant difference in the clinical phenotypes (including the first-episode age, first symptom and admission NIHSS score, BI, mRS score) in patients with symptomatic moyamoya disease (P> 0.05). In terms of vascular phenotype, heterozygous mutation group , Respectively. There was a significant difference between the wild genomic group and the posterior cerebral artery in 66.7% (4/6) and 7.4% (2/27) cases (χ ~ 2 = 7.947, P = 0.005) 4.0 ± 0.0,2.9 ± 0.7, the difference was statistically significant (P = 0.005). There was no significant difference in the distribution of primary and secondary collateral circulation in both groups (P> 0.05). Conclusion The c.14576G> A heterozygous mutant of ring finger protein 213 is similar to the clinical phenotype of wild type. The heterozygous mutant is more likely to be associated with posterior cerebral artery involvement than wild type, and the Suzuki stage is higher.