【U1132606】云南省少数民族G6PD缺陷症高发机理研究国家自然基金项目

云南省少数民族G6PD缺陷症高发机理研究

项目批准号： U1132606

批准年份： 2011

学科分类： C0605.遗传与进化

项目负责人：蒋玮莹

资助类别：联合基金项目

负责人职称：教授

依托单位：中山大学

资助金额： 200万元

关键词：缺陷症;疟疾;优势选择;少数民族;单倍域;G6PD

起止时间： 2012-01-01到2015-12-31

中英文摘要
结题摘要
结题报告
项目成果
项目参与人

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序号	标题	类型	作者
1	A Modified I-PCR to detect the factor VIII Inv22 for genetic diagnosis and prenatal diagnosis in haemophilia A	期刊论文	S. F. CHEN\|J. CHEN\|W. Y. JIANG\|Z. H. HE\|S. F. CHEN\|J. CHEN\|W. Y. JIANG\|Z. H. HE\|
2	A Strategy for the Molecular Diagnosis in Hemophilia A in Chinese Population	期刊论文	Yibin Guo\|Yibin Guo\|Weiying Jiang\|Weiying Jiang\|
3	A comprehensive analysis of ultrastructures of erythrocytes from patients with Glucose-6-Phosphate Dehydrogenase deficiency by atomic force microscopy.	会议论文
4	临床遗传学	专著	韩骅\|蒋玮莹\|韩骅\|蒋玮莹\|
5	《医学遗传学》	专著
6	F8基因全外显子测序技术在血友病B基因携带者及产前诊断中的应用	期刊论文	陈娟\|陈娟\|蒋玮莹\|蒋玮莹\|
7	广东地区地中海贫血致病基因的基因型及Beta珠蛋白基因多态性研究	期刊论文	田秋红\|田秋红\|王继成\|王继成\|
8	同型半胱氨酸调控脂肪组织PDK1的表达与糖代谢的关系	期刊论文	李汝红\|王雅楠\|李树德\|王殿华\|
9	A Strategy for the Molecular Diagnosis in Hemophilia A in Chinese Population	期刊论文	Yibin Guo\|Yibin Guo\|Weiying Jiang\|Weiying Jiang\|
10	《医学遗传学》	专著
11	A Strategy for the Molecular Diagnosis in Hemophilia A in Chinese Population	期刊论文	Guo, Yibin\|Guo, Yibin\|Jiang, Weiying\|Jiang, Weiying\|
12	Molecular epidemiological survey of G6PD deficiency and thalassemia among Uygur, Kazak ethnic groups in Xinjiang, Northwest China	期刊论文	Hai Su\|Hai Su\|Hao Wu\|Hao Wu\|
13	Prenatal diagnosis of hemophilia A, presenting a new mutation in the FVIII gene	期刊论文	He\| Zhihui\|Chen\| Shufeng\|Jiang\| Weiying\|
14	Molecular epidemiological survey of G6PD deficiency and thalassemia among Uygur, Kazak ethnic groups in Xinjiang, Northwest China	期刊论文	Hai Su\|Hai Su\|Hao Wu\|Hao Wu\|
15	同型半胱氨酸对小鼠糖异生作用的影响	期刊论文	冯维杨\|桂莉\|王芳\|李树德\|
16	白藜芦醇对胰岛素抵抗模型中同型半胱氨酸代谢关键酶的调控	期刊论文	郭家智\|陆地\|桂莉\|李树德\|
17	A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family	期刊论文	Chen, Lu-Ming\|Chen, Lu-Ming\|Chen, Su-Qin\|Chen, Su-Qin\|
18	广东地区地中海贫血致病基因的基因型及Beta珠蛋白基因多态性研究	期刊论文	田秋红\|田秋红\|王继成\|王继成\|
19	医学遗传学	专著
20	Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients.	期刊论文	Li Z\|Lei J\|Pang T\|Xu B\|Jiang WY\|Li Hongyi\|Zhang KH\|Li Z\|Lei J\|Pang T\|Xu B\|Jiang WY\|Li Hongyi\|Zhang KH\|
21	Changes in red blood cells membrane structure in G6PD deficiency: an atomic force microscopy study	期刊论文	Hongyi Li\|Hongyi Li\|Weiying Jiang\|Weiying Jiang\|
22	G6PD Genotype and Its Associated Enzymatic Activity in a Chinese Population	期刊论文	Zhou BY\|Yu GL\|Liu H\|Zeng JB\|Lin QD\|Jiang WY\|Hong Li Xi\|Hua Liang\|Zhou BY\|Yu GL\|Liu H\|Zeng JB\|Lin QD\|Jiang WY\|Hong Li Xi\|Hua Liang\|
23	G6PD Genotype and Its Associated Enzymatic Activity in a Chinese Population	期刊论文	Zhou BY\|Yu GL\|Liu H\|Zeng JB\|Lin QD\|Jiang WY\|Hong Li Xi\|Hua Liang\|Zhou BY\|Yu GL\|Liu H\|Zeng JB\|Lin QD\|Jiang WY\|Hong Li Xi\|Hua Liang\|
24	Genetic diagnosis of one family with incomplete clinical data	期刊论文	Sirsingh H.Bhajoo\|Sirsingh H.Bhajoo\|Weiying Jiang\|Weiying Jiang\|
25	A Modified I-PCR to detect the factor VIII Inv22 for genetic diagnosis and prenatal diagnosis in haemophilia A	期刊论文	S. F. CHEN\|J. CHEN\|W. Y. JIANG\|Z. H. HE\|S. F. CHEN\|J. CHEN\|W. Y. JIANG\|Z. H. HE\|
26	Changes in red blood cells membrane structure in G6PD deficiency: an atomic force microscopy study	期刊论文	Hongyi Li\|Hongyi Li\|Weiying Jiang\|Weiying Jiang\|
27	A Strategy for the Molecular Diagnosis in Hemophilia A in Chinese Population	期刊论文	Guo, Yibin\|Guo, Yibin\|Jiang, Weiying\|Jiang, Weiying\|
28	Genetic diagnosis of one family with incomplete clinical data	期刊论文	Sirsingh H.Bhajoo\|Sirsingh H.Bhajoo\|Weiying Jiang\|Weiying Jiang\|
29	A comprehensive analysis of ultrastructures of erythrocytes from patients with Glucose-6-Phosphate Dehydrogenase deficiency by atomic force microscopy.	会议论文
30	贵州土家族葡萄糖-6-磷酸脱氢酶基因突变型	期刊论文	李学英\|李学英\|余晓\|余晓\|
31	The Hb H Disease Genotypes in Southern China	期刊论文	Du, Chuanshu\|Du, Chuanshu\|Chen, Suqin\|Chen, Suqin\|
32	Changes in red blood cell membrane structure in G6PD deficiency and thalassemia: an atomic force microscopy study	会议论文
33	A Modified I-PCR to detect the factor VIII Inv22 for genetic diagnosis and prenatal diagnosis in haemophilia A	期刊论文	He, Z. H.\|Chen, S. F.\|Chen, J.\|Jiang, W. Y.\|
34	同型半胱氨酸对葡萄糖代谢和骨骼肌p-Akt(Ser-473)的影响	期刊论文	魏云芳\|贺铭\|王昕\|李树德\|
35	《医学遗传学》	专著
36	医学遗传学	专著
37	F8基因全外显子测序技术在血友病B基因携带者及产前诊断中的应用	期刊论文	陈娟\|陈娟\|蒋玮莹\|蒋玮莹\|
38	A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family	期刊论文	Chen, Lu-Ming\|Chen, Lu-Ming\|Chen, Su-Qin\|Chen, Su-Qin\|
39	聚合酶链式反应非特异性扩增抑制因子的发现以及全血直接PCR检测G 6PD基因外显子3-4突变	期刊论文	余升红\|丁峰\|王继成\|蒋玮莹\|余升红\|丁峰\|王继成\|蒋玮莹\|
40	医学遗传学	专著	蒋玮莹\|
41	A comprehensive analysis of membrane and morphology of erythrocytes frompatients with Glucose-6-Phosphate Dehydrogenase deficiency	期刊论文	Yibin Guo\|Yibin Guo\|Hongyi Li\|Hongyi Li\|
42	A comprehensive analysis of membrane and morphology of erythrocytes frompatients with Glucose-6-Phosphate Dehydrogenase deficiency	期刊论文	Yibin Guo\|Yibin Guo\|Hongyi Li\|Hongyi Li\|
43	聚合酶链式反应非特异性扩增抑制因子的发现以及全血直接PCR检测G 6PD基因外显子3-4突变	期刊论文	余升红\|丁峰\|王继成\|蒋玮莹\|余升红\|丁峰\|王继成\|蒋玮莹\|
44	The Hb H Disease Genotypes in Southern China	期刊论文	Du, Chuanshu\|Du, Chuanshu\|Chen, Suqin\|Chen, Suqin\|
45	胰岛素抵抗大鼠模型中同型半胱氨酸代谢关键酶的变化	期刊论文	康丽\|陆地\|桂莉\|李树德\|
46	贵州土家族葡萄糖-6-磷酸脱氢酶基因突变型	期刊论文	李学英\|李学英\|余晓\|余晓\|
47	同型半胱氨酸对葡萄糖代谢和骨骼肌p-Akt(Ser-473)的影响	期刊论文	魏云芳\|贺铭\|王昕\|李树德\|
48	高同型半胱氨酸血症中肝脏的脂肪变性	期刊论文	桂莉\|王芳\|李树德\|张鹏\|
49	云南省西双版纳州G6PD缺乏症及其与疟疾流行关系的调查	期刊论文	文静\|瞿燕\|李海源\|蒋玮莹\|
50	Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients.	期刊论文	Li Z\|Lei J\|Pang T\|Xu B\|Jiang WY\|Li Hongyi\|Zhang KH\|Li Z\|Lei J\|Pang T\|Xu B\|Jiang WY\|Li Hongyi\|Zhang KH\|
51	云南省基诺族G6-PD缺乏症的调查报告	期刊论文	瞿燕\|文静\|李海源\|蒋玮莹\|
52	Changes in red blood cell membrane structure in G6PD deficiency and thalassemia: an atomic force microscopy study	会议论文
53	临床遗传学	专著	韩骅\|蒋玮莹\|韩骅\|蒋玮莹\|
54	《医学遗传学》	专著

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