先天性心脏病家系心室肌球蛋白轻链1基因的RFLP分析  

RFLP analysis of ventricular myosin light chain 1 gene in families with congenital heart disease.

作　　者：王永业[1] GeorgeJackowski QinweiShi 

机构地区：[1]山西医学院生物教研室，030001 [2]加拿大多伦多儿童医院

出　　处：《中国优生与遗传杂志》1993年第3期1-5,9,共6页Chinese Journal of Birth Health & Heredity

摘　　要：本研究利用人心室肌球蛋白轻链1cDNA探针对先天性心脏病家系心室肌球蛋白轻链1基因进行了RFLP分析。从患有四种不同先天性心脏病的9个家系40名成员和13名无血缘关系患者的RFLP分析结果发现,有两个家系呈现限制酶切片段多态性,但这种限制性酶切片段多态性似与先天性心脏病的发生没有联系。Genomic DNAs isolated from 9 families and 13 unrelated individual patients with 4 different types of congenital heart disease were examined by Southern blot analysis using a cDNA probe which codes for the full length human ventricular myosin light chain 1 . Restriction fragment polymorphisms were detected in two families and were not associated with any type of congenital heart disease.

关 键 词：先天性心脏病 家系 心室肌球蛋白轻链1基因 RFLP 

分 类 号：R541.1[医药卫生—心血管疾病]