| PRKCI基因单核苷酸多态性与神经管畸形的相关性研究 |
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| 引用本文： | 高永辉,陈晓丽,上官少方,包怡华,卢晓琳,邹继珍,张霆,戴耀华. PRKCI基因单核苷酸多态性与神经管畸形的相关性研究[J]. 中国优生与遗传杂志, 2011, 0(9): 21-23 |
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| 作者姓名： | 高永辉 陈晓丽 上官少方 包怡华 卢晓琳 邹继珍 张霆 戴耀华 |
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| 作者单位： | 北京协和医学院;首都儿科研究所; |
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| 基金项目： | 国家973项目“中国人口重大出生缺陷遗传和环境交互作用机制研究”:2007CB511901 |
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| 摘 要： | 目的探讨PRKCI基因单核苷酸多态性（SNP）与中国山西省神经管畸形（NTDs）发生的相关性。方法采用病例对照研究,利用MassARRAY分子量阵列分析平台,检测133例NTDs标本和135例非病理性胎儿标本PRKCI基因中17个标签SNPs的基因分型,分析其与NTDs发生的相关性。结果 17个SNPs位点中,16个的微效等位基因频率（MAF）与HapMap或dbSNP数据库的结果基本一致。除rs9876082外,其余SNPs位点的基因型分布和等位基因频率在病例组和对照组均无明显差异。rs9876082位点为纯合的微效等位基因A时,NTDs的发病率增加（P=0.035,比值比=2.135,95%可信区间=1.846-2.471）,但是调整其它变量后进行logistic回归分析,这种相关性不再明显（P=0.057）。结论 PRKCI基因rs9876082位点与NTDs的发生有弱的相关性,这种相关性需进一步加大样本进行验证,PRKCI基因可能不是通过其SNPs影响NTDs的易感性。
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| 关 键 词： | PRKCI 单核苷酸多态性（SNP） 神经管畸形（NTDs） |
Association of PRKCI gene polymorphisms and risk for neural tube defects: a case-control study in Chinese population. |
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| GAO Yong-hui ,,CHEN Xiao-li,SHANGGUAN Shao-fang ,BAO Yi-hua,LU Xiao-lin ,ZOU Ji-zhen,ZHANG Ting,DAI Yao-hua .. Association of PRKCI gene polymorphisms and risk for neural tube defects: a case-control study in Chinese population.[J]. Chinese Journal of Birth Health & Heredity, 2011, 0(9): 21-23 |
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| Authors: | GAO Yong-hui CHEN Xiao-li SHANGGUAN Shao-fang BAO Yi-hua LU Xiao-lin ZOU Ji-zhen ZHANG Ting DAI Yao-hua . |
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| Affiliation: | GAO Yong-hui 1,2,CHEN Xiao-li2,SHANGGUAN Shao-fang 2,BAO Yi-hua2,LU Xiao-lin 2,ZOU Ji-zhen2,ZHANG Ting2,DAI Yao-hua 2.(1.Peking Union Medical Colledge,Beijing 100730,China,2.Capital Institute of Pediatrics,Beijing 100020,China) |
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| Abstract: | Objective:The aim of the study was to elucidate the role of single nucleotide polymorphism(SNP) of PRKCI gene in the etiology of NTDs.Methods: We conducted a case-control study in a high risk area of China to evaluate the association between the risk of NTDs and common variants of PRKCI gene.Total 17 single nucleotide polymorphisms(SNPs) in PRKCI gene were genotyped among 133 neural tube defects samples and 135 normal control samples.Results: The minor allele frequencies(MAFs) of rs9876082 showed statistica... |
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| Keywords: | PRKCI Single nucleotide polymorphism(SNP) Neural tube defects(NTDs) |
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