疾病相关基因克隆的意义与技术

Cloning of Disease related Gene importance and Technologies

疾病相关基因克隆的意义与技术杨焕明张秀清刘山鸣莫建洪刘国仰（中国医学科学医基础医学研究所中国协和医科大学基础医学部，北京１００００５）ＡＢＳＴＲＡＣＴＴｈｅ１９９０’ｓｈａｓｗｉｔｎｅｓｓｅｄｔｈｅ＂ｇｏｌｄｅｎａｇｅ＂ｏｆｈｕｍａｎｍｅｄｉｃａｌｇ...

The 1990’s has witnessed the 'golden age'of human medical genetics.It has been generally accepted that most,if not all,of the diseases are related,either'directly'or'indirectly',to gene(s),thus making the identification of disease related genes one of the frontiers of biomedical research programs as well as the substantial of both'human genome project(HGP)'and'post genome'projects.Strategies for gene identification have been developed and sucessfully applied to the cloning of many important genes,'Functional cloning'strategy,most classical and still applicable,depends on expression and function of the gene product(s).'Positional Cloning'is based on'the whole genome strategy'of HGP and solely dependent on the position of the gene in the genome.Because of its ability to clone those genes without any knowledge about their structure,function,even tissue specificity,'positional cloning'has made great contribution to the cloning of genes responsible for important diseases,which was unimaginable only a decade ago.'Candidate cloning',either functional or positional,is developed on the basis of exponentially accumulated data about the human genome.The successful cloning of disease related genes is dependent on the combination of technologies both already available and under developing.