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论文摘要

PRDM16基因及母亲孕期环境暴露因素与非综合征型唇腭裂相关性研究

Associations among PRDM16 polymorphisms, environmental exposure factors during mother’s pregnancy, and non-syndromic cleft lip with or without cleft palate

作者:殷斌,石冰,贾仲林

Author:Bin Yin,Bing Shi,Zhonglin Jia

收稿日期:2018-01-03          年卷(期)页码:2018,36(5):503-503-507

期刊名称:华西口腔医学杂志

Journal Name:West China Journal of Stomatology

关键字:非综合征型唇腭裂,PRDM16基因,单核苷酸多态性,传递不平衡检验,连锁不平衡检验,

Key words:nonsyndromic cleft lip with or without cleft palate,PRDM16 gene,single nucleotide polymorphism,trans-mission disequilibrium test,linkage disequilibrium,

基金项目:国家重点研发计划精准医学研究项目(2016YFC0905203);国家自然科学基金(81271118);国家自然基金青年科学基金(81600849)

中文摘要

目的 探究PRDM16基因rs7525173、rs2236518、rs2493264及母亲孕早期吸烟饮酒与非综合征型唇腭裂(NSCL/P)发生的相关性。方法 收集157个患者-父母核心家系,采用连接酶检测反应(LDR)和直接测序两种方法进行基因分型,使用传递不平衡检验(TDT)、连锁不平衡检验(LD)等对数据进行统计分析。收集1 710例唇腭裂患者及956例健康新生儿,填写《唇腭裂患者流行病学调查问卷》,对孕期父母吸烟饮酒暴露因素进行分析。结果 rs2236518位点C等位基因在腭裂组中存在过传递(PP结论 PRDM16基因rs2236518多态性与NSCL/P存在相关性,母亲吸烟、母亲被动吸烟及母亲饮酒与唇腭裂的发生存在密切联系。

英文摘要

ObjectiveWe aimed to study the association between rs7525173, rs2236518, rs2493264 single nucleotide poly-morphism (SNP) in the PRDM16 gene, smoking, alcohol exposures, and nonsyndromic cleft lip with or without cleft palate (NSCL/P).MethodsA total of 157 case-parent trios were selected, and SNPs were genotyped by using ligase detection reaction (LDR) and direct sequencing methods. Transmission disequilibrium test (TDT) and linkage disequilibrium (LD) tests were con-ducted to analyze the data. A total of 1 710 patients with orofacial clefts and 956 healthy newborns were enrolled in the epide-miological survey. The smoking and drinking exposures of parents during early pregnancy were analyzed.ResultsThe C allele at rs2236518 was over-transmitted for NSCPO (PPConclusionThe rs2236518 at PRDM16 gene, maternal smoking, maternal passive smoking, and maternal drinking were closely related to the occurrence of NSCL/P.

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