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目的 :研究北京地区 12 0 0例汉族人群线粒体脂肪酸氧化代谢中的三功能蛋白酶 (mitochondrialtrifunc tionalprotein ,MTP)α亚单位的长链三羟基酰基辅酶A脱氢酶 (longchain 3 hydroxyacyl CoAdehydrogenase ,LCHAD)G15 2 8C基因的突变频率。方法 :应用聚合酶链反应 限制性片段长度多态性 (polymerasechainreaction re strictedfragmentlengthpolymorphism ,PCR RFLP)技术分析 12 0 0例汉族正常产妇脐血MTP的α亚单位G15 2 8C基因突变携带情况。实验以西方人种的G15 2 8C杂合子标本为阳性对照 ,同时设立阴性和空白对照作为实验技术质控标准。结果 :12 0 0例汉族产妇脐血标本G15 2 8C基因经PCR RFLP突变筛查检测后 ,未见有与阳性对照标本相对分子质量相同的条带出现。结论 :中国人群与白种人之间可能存在着种族差异 ,西方人种中常见的MTPα亚单位的G15 2 8C基因突变可能不是中国人种中常见的突变位点。
OBJECTIVE: To study longchain 3 hydroxyacyl CoAdehydrogenase (LCHAD) G15 2 in the mitochondrial trimemory chain (CTP) α subunit of mitochondrial fatty acid oxidative metabolism in 1200 Han Chinese population in Beijing. 8C gene mutation frequency. Methods: PCR-RFLP technique was used to analyze the mutation of G15 2 8C in α subunit of MTP of 120 normal Han women. In the experiment, heterozygous G15 2 8C heterozygous specimens of western people were used as positive control, and negative and blank controls were established as control standards of experimental techniques. Results: There was no band with the same molecular weight as that of the positive control specimen after PCR screening of the G15 2 8C gene in 120 cases of Han maternal umbilical cord blood. Conclusion: There may be racial differences between Chinese population and Caucasians. The mutation of G15 2 8C, a common MTPα subunit in western populations, may not be a common mutation point in Chinese race.