随着分子生物学的进步，遗传病分子诊断在许多方面取得了显著进展。策略上的改善使我们有可能在分子水平上对多基因遗传病进行诊断；着床前诊断使有遗传病风险的夫妇有望获得完全正常的孩子；RNA诊断适用于检测基因表达的缺陷；多色FISH使染色体病的诊断更加准确可靠。得益于人基因组计划的成果，遗传病分子诊断将进入一个全新的时代。 With the advancement of molecular biology, genetic molecular diagnosis has made remarkable progress in many aspects. Strategic improvements have made it possible to diagnose polygenic disorders at the molecular level; preimplantation diagnoses couples at risk of genetic disease with the expectation of a fully normal child; RNA diagnostics for detection of gene expression defects; multicolored FISH makes the diagnosis of chromosome disease more accurate and reliable. Benefit from the results of the human genome project, genetic disease molecular diagnosis will enter a new era.