本文介绍近年来已明确的基因异常的心脏病。1.Marfan综合征Marfan综合征是以结缔组织异常为特征的常染色体显性遗传性疾病。1986年Sakai等从培养的人纤维母细胞中发现叫做原纤维的新的结缔组织蛋白。1990年用多形性DNA标记物分析其链结构发现Marfan综合征的病原基因存在于第15号染色体。1991年由二个研究组发表了三篇重要文章。Lee等进行原纤维的基因克隆培养,发现基因存在于15号染色体中(15q15— This article describes the heart disease that has been identified in recent years with abnormal genes. Marfan syndrome Marfan syndrome is an autosomal dominant genetic disorder characterized by connective tissue abnormalities. In 1986, Sakai et al. Found new connective tissue proteins called fibrils from cultured human fibroblasts. 1990, polymorphism of DNA markers to analyze the structure of the chain found Marfan syndrome pathogens exist in chromosome 15. In 1991 two major study groups published three important articles. Lee and other fibroblast gene cloning and culture, found that the gene exists in chromosome 15 (15q15-