目的分析山西地区育龄妇女的叶酸代谢能力相关基因的多态性。方法采集1070例育龄妇女的口腔黏膜上皮细胞，检测其5，10-亚甲基四氢叶酸还原酶（methylene tetrahydrofolate reductase,，MTHFR）基因的C667T、A1298C位点、甲硫氨酸合酶...目的分析山西地区育龄妇女的叶酸代谢能力相关基因的多态性。方法采集1070例育龄妇女的口腔黏膜上皮细胞，检测其5，10-亚甲基四氢叶酸还原酶（methylene tetrahydrofolate reductase,，MTHFR）基因的C667T、A1298C位点、甲硫氨酸合酶还原酶（methionine synthase reductase,MTRR）基因的A66G位点、以及还原叶酸载体1（solute carrier family 19, member 1,SLC19A1 or RFC1 ）基因的A80G位点的序列，并与我国其他地区人群的基因型和等位基因频率分布进行比较，判断其叶酸代谢能力的强弱，并进行叶酸补充风险分级。结果MTHFR基因C667T位点的野生型（CC）、杂合突变型（CT）、纯合突变型（TT）分别占20．5％、50．3％、29．2％，突变等位基因T的频率为54．4％；MTHFR基因A1298C位点的上述频率分别为68．7％、29．3％、2．0％，突变等位基因C的频率为16．6％；MTRRA66G位点的分别为51．5％、41．8％、6．7％，突变等位基因G的频率为27．6％；SLC19AI（RFCI）ASOG位点分别为29．2％、48．0％、22．8％，突变等位基因G的频率为46．8％。与我国其他地区人群的基因多态性分布相比，山西地区人群MTRRA66G、SLC19A1A80G位点的基因型分布与等位基因频率具有明显的差异（P＜0．05），而MTHFRC667T、MTHFRA1298C则无明显差异。山西地区人群叶酸代谢能力差风险较低者占45．0％，略高风险与较高风险者分别占41．0％、13．5％，风险很高者占0．5％。结论我国不同地区人群叶酸代谢相关基因的多态性分布存在明显的差异。山西地区超过50％以上的育龄妇女携带高风险基因。基于叶酸代谢基因多态性的检测结果指导和监测孕期叶酸补充，将是进～步减少出生缺陷的重要手段。展开更多
The protein complex crystallographic beamline BL19U1 at the Shanghai Synchrotron Radiation Facility is one of the five beamlines dedicated to protein sciences operated by National Facility for Protein Science(Shanghai...The protein complex crystallographic beamline BL19U1 at the Shanghai Synchrotron Radiation Facility is one of the five beamlines dedicated to protein sciences operated by National Facility for Protein Science(Shanghai,China).The beamline,which features a small-gap invacuum undulator,has been officially open to users since March 2015.This beamline delivers X-ray in the energy range 7–15 keV.With its high flux,low divergence beam and a large active area detector,BL19U1 is designed for proteins with large molecular weight and large crystallographic unit cell dimensions.Good performance and stable operation of the beamline have allowed the number of Protein Data Bank(PDB)depositions and the number of articles published based on data collected at this beamline to increase steadily.To date,over 300 research groups have collected data at the beamline.More than 600 PDB entries have been deposited at the PDB(www.pdb.org).More than 300 papers have been published that include data collected at the beamline,including 21 research articles published in the top-level journals Cell,Nature,and Science.展开更多
文摘目的分析山西地区育龄妇女的叶酸代谢能力相关基因的多态性。方法采集1070例育龄妇女的口腔黏膜上皮细胞，检测其5，10-亚甲基四氢叶酸还原酶（methylene tetrahydrofolate reductase,，MTHFR）基因的C667T、A1298C位点、甲硫氨酸合酶还原酶（methionine synthase reductase,MTRR）基因的A66G位点、以及还原叶酸载体1（solute carrier family 19, member 1,SLC19A1 or RFC1 ）基因的A80G位点的序列，并与我国其他地区人群的基因型和等位基因频率分布进行比较，判断其叶酸代谢能力的强弱，并进行叶酸补充风险分级。结果MTHFR基因C667T位点的野生型（CC）、杂合突变型（CT）、纯合突变型（TT）分别占20．5％、50．3％、29．2％，突变等位基因T的频率为54．4％；MTHFR基因A1298C位点的上述频率分别为68．7％、29．3％、2．0％，突变等位基因C的频率为16．6％；MTRRA66G位点的分别为51．5％、41．8％、6．7％，突变等位基因G的频率为27．6％；SLC19AI（RFCI）ASOG位点分别为29．2％、48．0％、22．8％，突变等位基因G的频率为46．8％。与我国其他地区人群的基因多态性分布相比，山西地区人群MTRRA66G、SLC19A1A80G位点的基因型分布与等位基因频率具有明显的差异（P＜0．05），而MTHFRC667T、MTHFRA1298C则无明显差异。山西地区人群叶酸代谢能力差风险较低者占45．0％，略高风险与较高风险者分别占41．0％、13．5％，风险很高者占0．5％。结论我国不同地区人群叶酸代谢相关基因的多态性分布存在明显的差异。山西地区超过50％以上的育龄妇女携带高风险基因。基于叶酸代谢基因多态性的检测结果指导和监测孕期叶酸补充，将是进～步减少出生缺陷的重要手段。
文摘The protein complex crystallographic beamline BL19U1 at the Shanghai Synchrotron Radiation Facility is one of the five beamlines dedicated to protein sciences operated by National Facility for Protein Science(Shanghai,China).The beamline,which features a small-gap invacuum undulator,has been officially open to users since March 2015.This beamline delivers X-ray in the energy range 7–15 keV.With its high flux,low divergence beam and a large active area detector,BL19U1 is designed for proteins with large molecular weight and large crystallographic unit cell dimensions.Good performance and stable operation of the beamline have allowed the number of Protein Data Bank(PDB)depositions and the number of articles published based on data collected at this beamline to increase steadily.To date,over 300 research groups have collected data at the beamline.More than 600 PDB entries have been deposited at the PDB(www.pdb.org).More than 300 papers have been published that include data collected at the beamline,including 21 research articles published in the top-level journals Cell,Nature,and Science.
