| 中国北方少数民族人群同型半胱氨酸代谢酶的遗传多态性 |
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| 引用本文： | 朱慧萍,赵如冰,刀京晶,李竹,金丽,高谦.中国北方少数民族人群同型半胱氨酸代谢酶的遗传多态性[J].中国生育健康杂志,2000(2). |
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| 作者姓名： | 朱慧萍 赵如冰 刀京晶 李竹 金丽 高谦 |
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| 作者单位： | 北京大学卫生部生育健康研究重点实验室，北京大学卫生部生育健康研究重点实验室，北京大学卫生部生育健康研究重点实验室，北京大学卫生部生育健康研究重点实验室，吉林省延边市妇幼保健所，新疆维吾尔自治区乌鲁木齐市妇幼保健院 北京 100083，北京 100083，北京 100083，北京 100083 |
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| 基金项目： | 国家“863”项目(863-102-10)，自然科学基金(39800130) |
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| 摘 要： | 目的 了解我国北方地区3个少数民族人群中MTHFR和CBS基因的遗传多态性,获得MTHFR C677T和A1298 C 以及CBS T833C和G919A位点的群体遗传学数据。方法 应用PCR-RFLP,PCR-ARMS技术分别调查了吉林延边朝鲜族、新疆乌鲁木齐维吾尔族和回族新生儿的基因型分布。结果 回族和朝鲜族MTHFR677纯合突变频率为16.7％和20.9％,与中国北方人群的总体水平基本一致,而维吾尔族人群纯合突变频率(5.3％)低于其它民族,但差异无显著性(P>0.05);朝鲜族人群CBS基因T833 C纯合突变频率(7％)低于其它两个民族(15.8％～16.7％)。结论 CBS T833 C位点多态性也可能存在群体差异。
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| 关 键 词： | 同型半胱氨酸代谢酶 基因多态性 MTHFR CBS |
Genetic polymorphism of homocysteine metabolic enzymes among populations of minority ethnicities in north China |
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| ZHU Huiping,ZHAO Rubing,DAO Jingjing,et al..Genetic polymorphism of homocysteine metabolic enzymes among populations of minority ethnicities in north China[J].Chinese JOurnal of Reproductive Health,2000(2). |
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| Authors: | ZHU Huiping ZHAO Rubing DAO Jingjing |
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| Institution: | ZHU Huiping,ZHAO Rubing,DAO Jingjing,et al. Reference Laboratory of Reproductive Health Care of Health Ministry,Peking University,100083,China |
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| Abstract: | Objective To find out genetic polymorphism of homocysteine metabolic enzymes, MTHFR and CBS,among the three minority ethnicities in north China. Methods PCR-RFLP and PCR-ARMS techniques were used to detect MTHFR C677T,A1298C and CBS T833C,G919A polymorphisms among newborns of Hui,Korea,Uygur ethnicities. Results For Hui and Korean MTHFR C677T homozygotes frequecies are 16. 7%and 20.9%,respectively, which are accordant with the frequency of the total population of north China. While that of Uygur is lower than the others (5.3%), but not significantly (P> 0. 05 ). CBS T833C homozygotes frequency of Korea( 7% )is lower than the other two(15.8%-16.7%). Conclusion Population variation must also be exist for CBS T833C polymorphsim. |
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| Keywords: | Homocysteine metabolic enzymes Gene polymorphism MTHFR CBS |
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