【31171214】广东省客家人G6PD缺陷等位基因正向选择的机制研究国家自然基金项目

广东省客家人G6PD缺陷等位基因正向选择的机制研究

项目批准号： 31171214

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：面上项目

负责人职称：教授

依托单位：中山大学

资助金额： 65万元

关键词：正向选择;客家人;G6PD缺陷症;疟疾;磷酸戊糖

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 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\|
2	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\|
3	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\|
4	Genetic diagnosis of one family with incomplete clinical data	期刊论文	Sirsingh H.Bhajoo\|Sirsingh H.Bhajoo\|Weiying Jiang\|Weiying Jiang\|
5	A comprehensive analysis of ultrastructures of erythrocytes from patients with Glucose-6-Phosphate Dehydrogenase deficiency by atomic force microscopy.	会议论文
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	医学遗传学	专著
8	《医学遗传学》	专著
9	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\|
10	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\|
11	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\|
12	临床遗传学	专著	韩骅\|蒋玮莹\|韩骅\|蒋玮莹\|
13	眼皮肤白化病研究的新途径及TYR基因2种新突变的分析	期刊论文	李卓\|逄婷\|蒋玮莹\|李洪义\|
14	甲型血友病产前基因诊断方法体系的建立	会议论文	陈娟\|何志晖\|蒋玮莹\|
15	A comprehensive analysis of ultrastructures of erythrocytes from patients with Glucose-6-Phosphate Dehydrogenase deficiency by atomic force microscopy.	会议论文
16	The Hb H Disease Genotypes in Southern China	期刊论文	Du, Chuanshu\|Du, Chuanshu\|Chen, Suqin\|Chen, Suqin\|
17	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\|
18	乙型血友病（血友病B）的基因诊断及产前诊断	会议论文	肖潇\|刘玲\|蒋玮莹\|
19	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\|
20	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\|
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	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\|
23	A Strategy for the Molecular Diagnosis in Hemophilia A in Chinese Population	期刊论文	Yibin Guo\|Yibin Guo\|Weiying Jiang\|Weiying Jiang\|
24	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\|
25	《医学遗传学》	专著
26	《医学遗传学》	专著
27	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\|
28	A Strategy for the Molecular Diagnosis in Hemophilia A in Chinese Population	期刊论文	Guo, Yibin\|Guo, Yibin\|Jiang, Weiying\|Jiang, Weiying\|
29	A Strategy for the Molecular Diagnosis in Hemophilia A in Chinese Population	期刊论文	Guo, Yibin\|Guo, Yibin\|Jiang, Weiying\|Jiang, Weiying\|
30	A Strategy for the Molecular Diagnosis in Hemophilia A in Chinese Population	期刊论文	Yibin Guo\|Yibin Guo\|Weiying Jiang\|Weiying Jiang\|
31	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\|
32	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\|
33	医学遗传学	专著
34	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\|
35	Changes in red blood cell membrane structure in G6PD deficiency and thalassemia: an atomic force microscopy study	会议论文
36	The Hb H Disease Genotypes in Southern China	期刊论文	Du, Chuanshu\|Du, Chuanshu\|Chen, Suqin\|Chen, Suqin\|
37	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\|
38	Genetic diagnosis of one family with incomplete clinical data	期刊论文	Sirsingh H.Bhajoo\|Sirsingh H.Bhajoo\|Weiying Jiang\|Weiying Jiang\|
39	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\|
40	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\|
41	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\|
42	Changes in red blood cell membrane structure in G6PD deficiency and thalassemia: an atomic force microscopy study	会议论文
43	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\|
44	临床遗传学	专著	韩骅\|蒋玮莹\|韩骅\|蒋玮莹\|
45	《医学遗传学》	专著

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