Schwartz K
I.N.S.E.R.M UR 153, Paris, France.
Herz. 1994 Apr;19(2):69-74.
Genetic linkage mapping has become an important technology applied to the study of human biology and in particular, for the delineation of the molecular basis of diseases through gene isolation and characterization of mutations in DNA. This approach was applied to cardiac hereditary disorders only a few years ago through the analysis of familial hypertrophic cardiomyopathy and congenital long QT syndrome. For both diseases, there is a striking genetic heterogeneity and analyses of genotype-phenotype correlations are underway. Familial occurrence is likely to play also an important role in idiopathic dilated cardiomyopathy. Genetic testing and risk stratification will be more complicated than it was initially expected, but hope is now there to discover new ways for preventing, diagnosing and treating deadly cardiac disorders.
基因连锁图谱已成为一项重要技术，应用于人类生物学研究，尤其是通过基因分离和DNA突变特征描述来阐明疾病的分子基础。仅仅几年前，这种方法才通过对家族性肥厚型心肌病和先天性长QT综合征的分析应用于心脏遗传性疾病。对于这两种疾病，都存在显著的遗传异质性，目前正在对基因型与表型的相关性进行分析。家族性发病在特发性扩张型心肌病中可能也起着重要作用。基因检测和风险分层将比最初预期的更为复杂，但现在有希望找到预防、诊断和治疗致命性心脏疾病的新方法。
