PAPP-A基因多态性与子痫前期的相关性研究
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江苏省医学重点学科-重大疾病分子诊断和生物治疗的高技术平台(XK200705);江苏省医学重点人才基金资助项目(RC20074037)


Pregnancy-associated plasma protein-A polymorphism and the risk of pre-eclampsia
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    目的:探讨妊娠相关血浆蛋白A(PAPP-A)基因多态性与子痫前期的相关性-方法:采用聚合酶链反应-单链构象多态性(PCR-SSCP)对129例子痫前期患者(轻度子痫前期64例,重度子痫前期65例)和137例同期入院产检并在南京医科大学第一附属医院分娩的正常孕妇,进行PAPP-A基因位点S1224Y(A/C)(dbSNP: rs7020782)多态性的分析,比较各基因型及等位基因的频率在子痫前期组和正常组间-重度子痫前期组和轻度子痫前期组间的差别-结果:AC基因型频率在子痫前期组(44.2%)高于对照组(31.4%,P﹤0.05);AC基因型频率在重度子痫前期组(75.4%)明显高于轻度子痫前期组(12.5%,P﹤0.001);C等位基因频率在重度子痫前期组(40.8%)明显高于轻度子痫前期组(18.7%,P < 0.001)-结论:PAPP-A基因位点S1224Y(A/C)的AC基因型,C等位基因可能是子痫前期的重要遗传危险因素,并与病情的严重程度相关-

    Abstract:

    Objective:To estimate whether PAPP-A(Pregnancy-associated plasma protein-A) polymorphism is associated with pre-eclampsia. Methods:By means of polymerase Chain Reaction and Single-Strand Conformation Polymorphism,S1224Y(A/C)(dbSNP: rs7020782) polymorphism in the PAPP-A gene was detected in 129 women with pre-eclampsia(64 with mild pre-eclampsia and 65 with severe pre-eclampsia) and 137 normal control women with uncomplicated pregnancy. Investigators were blinded to clinical outcomes. Results:AC genotype frequency in pre-eclampsia group were higher than those in control group(44.2% VS 31.4%)(P﹤0.05); AC genotype frequency in severe pre-eclampsia group were significantly higher than those in mild pre-eclampsia group (75.4% VS 12.5%)(P﹤0.001). C allele frequency in severe pre-eclampsia group were significantly higher than those in mild pre-eclampsia group(40.8% VS 18.7%)(P﹤0.001). Conclusion:The AC genotype and C allele of S1224Y(A/C) polymorphism in the PAPP-A gene might be a risk genetic marker of pre-eclampsia. In patients with pre-eclampsia,there is the association between AC genotype and C allele of PAPP-A gene and severity of pre-eclampsia.

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李 坤,孙丽洲,吴恒芳,杨 笛,张寄南. PAPP-A基因多态性与子痫前期的相关性研究[J].南京医科大学学报(自然科学版),2009,29(4):544-547

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  • 收稿日期:2008-11-11
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