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.

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.