兰州大学机构库 >学院待认领
一个新的ACTC1基因的5,端剪切位点的突变可能在室间隔缺损的发病中起重要作用
Alternative TitleOne Novel 5′ Splice Site Mutation of ACTC1 Gene Might Play A Important Role In Ventricular Septal Defect (VSD)
李航
Thesis Advisor高秉仁
2012-05-21
Degree Grantor兰州大学
Place of Conferral兰州
Degree Name硕士
Keyword先天性心脏病 室间隔缺损 ACTC1基因 剪切位点 隐蔽剪切位点
Abstract先心病的发病是由多个遗传基因及环境危险因素的累积效应共同决定的。国外大量研究成果与我国的实际情况是否“兼容”,黄河上游及河西走廊地区地处高原,自然气候更为特殊,既处于高海拔干旱地区,自然条件较为恶劣,同时环境污染又较为严重,尚不清楚该地区先天性心脏病的致病基因是否又不同于其他地区的已取得的研究成果。本研究旨在从黄河上游地区110个先天性心脏病核心家系(每个家系至少有一名先心病患者,家系成员包括患者的父母、子女、兄妹等直系亲属)中筛查ACTC1基因的突变,探讨二者之间的关系,从而为先心病的病因学理论提供了更丰富的资料。
Other AbstractAs a candidate gene with congenital heart disease (CHD), ACTC1 gene has been found related to familial atrial septal defect (ASD). But remain few studies have been conducted about ACTC1 gene and congenital heart disease (CHD) in humans.
URL查看原文
Language中文
Document Type学位论文
Identifierhttps://ir.lzu.edu.cn/handle/262010/222377
Collection学院待认领
Affiliation临床医学院
Recommended Citation
GB/T 7714
李航. 一个新的ACTC1基因的5,端剪切位点的突变可能在室间隔缺损的发病中起重要作用[D]. 兰州. 兰州大学,2012.
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