近二、三十年来,随着细胞生物学、生物化学和遗传学的迅速发展,遗传病的研究亦获得了许多重要的进展。不仅遗传病的病种报导日渐增多,遗传病的发病机制研究愈趋深入,而且在遗传病的诊断、治疗和预防方面亦取得了可喜的成果。一、遗传病的病种报导日渐增多自从1908年AE Garrod报导第一例遗传性代谢缺陷病——黑尿酸尿症以后, Nearly two or three decades, with the rapid development of cell biology, biochemistry and genetics, genetic disease research has also made many important advances. Not only the increasing number of disease reports of genetic diseases, genetic disease pathogenesis more and more in-depth, but also in the diagnosis, treatment and prevention of genetic diseases also made gratifying achievements. First, the report of a growing number of genetic diseases reported Since 1908 AE Garrod reported the first case of hereditary metabolic defects - black uric aciduria,