Polymorphisms of the maternal Slug gene in fetal neural tube defects in a Chinese population  

作　　者：Li Guo Hong Zhao Yuheng Pei Quanren He Wan-I Li Ting Zhang Xiaoying Zheng Ran Zhou Jun Xie 

机构地区：[1]Department of Biochemistry and Molecular Biology,Ministry of Education Key Laboratory of Cellular Physiology,Shanxi Medical University,Taiyuan 030001,Shanxi Province,China [2]Department of Physiology,Linfen Vocational and Technical College,Linfen 041000,Shanxi Province,China [3]Department of Internal Neurology,Second Hospital,Shanxi Medical University,Taiyuan 030001,Shanxi Province,China [4]Department of Physiology and Pharmacology,University of Georgia,Athens 30602,GA,USA [5]Capital Institute of Pediatrics,Beijing 100020,China [6]Institute of Population Research,Peking University,Beijing 100871,China [7]Department of Prescription and Therapeutic Method,Shanxi Traditional Medical College,Taiyuan 030024,Shanxi Province,China

出　　处：《Neural Regeneration Research》2010年第17期1342-1346,共5页中国神经再生研究（英文版）

基　　金：the National Key Project of Scientific and Technical Supporting Pro-grams funded by the Ministry of Science & Technology of China, No. 2007BA107A02;the National Basic Research Program of China (973 Program), No. 2007CB511902;Shanxi Scholarship Council of China, No. 2008-48;the Natural Science Foundation of Shanxi Province, No. 2010011049-2

摘　　要：Several studies have demonstrated that Slug,which encodes a zinc finger of the Snail family of transcription factors,is a potential risk factor for neural tube defects.Neural tube defects tend to occur with a high rate in Shanxi province,China.The present case-control study investigated genotypic distributions and allele frequencies of Slug C1548A polymorphisms in DNA samples from59 women with a history of neural tube defect pregnancies and 73 controls during the same period from Shanxi Province,China.Results demonstrated that women with a history of neural tube defect pregnancies had significantly greater genotypic distributions of Slug AA genotypes and A allele frequencies compared with controls,and A allele Slug C1548A was a risk factor for neural tube defects（odds ratio = 3.444;95% confidence interval;2.021-5.868,P 〈 0.05）.Three-dimensional structure prediction revealed that Slug C1548A resulted in transition of aspartic acid into glutamate at position 119.This indicated that these mutations could lead to damaged protein structure and function.These findings suggest that Slug C1548A gene polymorphism is closely related to neural tube defects in a population of Han Chinese origin from Shanxi Province,ChinaSeveral studies have demonstrated that Slug,which encodes a zinc finger of the Snail family of transcription factors,is a potential risk factor for neural tube defects.Neural tube defects tend to occur with a high rate in Shanxi province,China.The present case-control study investigated genotypic distributions and allele frequencies of Slug C1548A polymorphisms in DNA samples from59 women with a history of neural tube defect pregnancies and 73 controls during the same period from Shanxi Province,China.Results demonstrated that women with a history of neural tube defect pregnancies had significantly greater genotypic distributions of Slug AA genotypes and A allele frequencies compared with controls,and A allele Slug C1548A was a risk factor for neural tube defects（odds ratio = 3.444;95% confidence interval;2.021-5.868,P 〈 0.05）.Three-dimensional structure prediction revealed that Slug C1548A resulted in transition of aspartic acid into glutamate at position 119.This indicated that these mutations could lead to damaged protein structure and function.These findings suggest that Slug C1548A gene polymorphism is closely related to neural tube defects in a population of Han Chinese origin from Shanxi Province,China

关 键 词：neural tube defects SLUG single nucleotide polymorphisms protein modeling 

分 类 号：Q346.5[生物学—遗传学] N031[自然科学总论—科学技术哲学]