先天性心脏病高发家系的遗传学研究

Study on Genetics of Congenital Heart Disease in Highly Attacked Families

本文通过36例先天性心脏病高发家系分析表明,一、二级亲属先天性心脏病患病率为8.998％。其中一级亲属为23.29％,二级亲属为4.29％,在父母近亲婚配的5个家系中,同胞患病率为55.56％,表明与先证者血缘关系越近的亲属发病率越高。采用分离分析法和多基因阈值理论分析法对本组资料进行了遗传方式探讨,结果表明,高发先天性心脏病的遗传方式既不符合常染色体单基因显性和隐性遗传,也不同于性连锁遗传,而是一种多基因遗传病。加权平均遗传率为148.074±7.055％,提示高发先天性心脏病的遗传方式为有一个显性主基因参与的多基因遗传。

In this paper 36 cases of congenital heart disease(CHD)from highly attacked families were studied,The essay states that the incidence rate of the CHD from the first and second degree relatives are 8. 998%. Among those the first degree relatives is 23. 29% and the second is 4. 29% ,In five families of the consanguineous marriage,the familial attack rate is 55. 56%. It suggests that the closer it is to the consanguineous proband.the higher the attack rate will be. Meanwhile the mode of inheritance of the CDH were studied and analyzed by using the analysing with segregation method and the polyge-nic threshold analyzing method. The result shows that the inheritance mode of CDH are quite different from monogenes autosomal dominant (AD) and recessive inheritance(AR) and different from the sex -linked inheritance, but it is a polygenic inheritance mode. The average rate of weighting heritability is 148. 074±7. 055%. As a result,The paper demonstrated that the heritance mode of CHD is a kind of polygenic inheritance with a major dominant gene taking part in.