中文摘要：

Pig-a基因位于人类X染色体短臂,参与糖基磷脂酰肌醇（GPI）连接蛋白的早期合成。Pig-a基因突变后不能正常合成GPI连接蛋白,致使细胞表型缺失,是阵发性睡眠性血红蛋白尿症发病的分子机制。该特性被应用于一项新的体内致突变试验——Pig-a基因突变试验：动物经过一次或多次染毒,一段时间后收集少量目标细胞,即可采用流式细胞术或有限稀释法对细胞突变频率进行定量检测,从而判定化学物的致突变性。Pig-a基因突变试验具有相对快捷、样品需求量小、可与重复毒性试验相结合的优势,能够更为全面可靠地评价受试物遗传毒性,被认为具有良好的应用前景。

英文摘要：

Pig-a gene,located in the X-chromosome,is involved in the early step of glycosylphosphatidyl inositol（ GPI） anchor synthesis pathway. Paroxysmal nocturnal hemoglobinuria,a rare acquired genetic disease characterized by GPI-anchored protein deficiencies,is probably caused by Pig-a gene mutation in bone marrow cells. This property of Pig-a gene can be used in mutation test for measuring in vivo gene mutation. In Pig-a gene mutation assay,only a small volume of target cells was required after once or multiple times of chemical exposure on experiment animals. Two strategies have been developed to measure cell mutation frequency,one using flow cytometry and the other using limiting-dilution cloning. Flow cytometric assay is relatively fast and requires a small volume of blood and only hours to produce a result,which can be integrated into repeat-dose toxicology studies. Pig-a gene mutation assay has promised to be a useful regulatory assay in mutagenicity evaluation.