介绍了中国医学遗传学国家重点实验室在遗传病家系收集、疾病基因定位、疾病基因克隆和疾病基因功能研究方面的研究工作。用细胞遗传学G显带技术于1975年发现了一条与鼻咽癌相关的标记染色体t（1；3）（q44；p11）；1981年将睾丸决定基因（TDF）定位于Yp11.32带；1991年以来收集遗传病家系345种共590个；1996年用显微切割、PCR、微克隆技术克隆了EXT2基因；1998年用基因家族-候选疾病基因克隆方法克隆了遗传性神经性耳聋基因GJB3；1999年用连锁分析和全基因组扫描将一种遗传性弥漫性浅表性光敏性汗孔角化症定位于12q23.2带，并在基因功能研究中发现了一个新的细胞内转运蛋白。

In this paper, the study on family collection, gene mapping, gene identification and gene function of human genetic diseases carried out in the National Laboratory of Medical Genetics of China, were described in detail. Using G-banding technique a marker chromosome t (1; 3) (q44; p11) associated with nasopharyngeal cancer was found in 1975 at first, and human TDF gene was mapped to chromosome Yp11. 32 in 1981. Since 1991, 590 families with 345 kind of genetic diseases were collected. In 1998, GJB3, a human genetic neurological deafness gene, was identified using a novel strategy of “Gene Family-Candidate Disease Gene Cloning”，and the paper was published in Nature Genetics (20： 370). In 1999, by linkage analysis and Genome Wide Scanning, a locus responsible for disseminated superficial actinic porokeratosis (DSAP) was identified at Chromosome 12q23. 2 - 24. 1; and at the same year a novel protein trafficking gene was also cloned from gene function study.