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母胎溶质转运家族2成员2基因型与妊娠期糖尿病的关系
引用本文:程琰,程海东.母胎溶质转运家族2成员2基因型与妊娠期糖尿病的关系[J].中华围产医学杂志,2010,13(1).
作者姓名:程琰  程海东
作者单位:复旦大学附属妇产科医院产科,上海,200011
基金项目:上海市重点学科建设项目 
摘    要:目的 通过对妊娠期糖尿病(gestational diabetes mellitus,GDM)孕妇及其子代溶质转运家族2成员2(solute cartier family 2,member 2,SLC2A2)基因多态性分析,探讨母胎基因型差异与GDM发病的关系. 方法 采用聚合酶链反应-高效变性液相色谱分析方法 ,检测126例孕妇(GDM组51例,正常孕妇对照组75例)及其分娩并随访到的62例新生儿(GDM组子代23例,对照组子代39例)的SLC2A2基因单核苷酸多态性位点rs5396(包括A和G等位基因,AA、AG和GG基因型)的基因频率分布情况. 结果 GDM组孕妇AA基因型频率高于对照组孕妇(86.3%和70.7%,P<0.05).A等位基因频率在对照组母子之间(85.3%和80.8%)、GDM组母子之间(93.1%和87.0%)、对照组子代与GDM组子代之间的分布差异均无统计学意义(P>0.05).GDM组母子均为AA基因型的比例为50.0%,对照组母子为55.0%(P=0.720). 结论 母亲的SLC2A2基因rs5396基因多态性可能与GDM发生相关,但子代的rs5396基因型变异与GDM的发病无相关性.母亲与其子代基因型差异与GDM发病相关的假设尚需进一步研究.

关 键 词:糖尿病  妊娠  疾病遗传易感性  多态性  单核苷酸  葡萄糖转运体2型  基因型

Association of maternal and fetal genotypes of rs5396 polymorphism of solute carrier family 2,member 2 gene in women with gestational diabetes mellitns
Abstract:Objective To elucidate the influence of fetal solute carrier family 2, member 2(SLC2A2) genotype on both non-diabetic pregnant women and pregnant females with GDM. MethodsIn this case-control study, anthropometric and metabolic variables of 75 non-diabetic pregnantcontrols with their 39 fetuses and 51 GDM women with their 23 fetuses were compared on the basis ofSLC2A2 rs5396 polymorphism. Results (1) The frequency of AA genotype of site rs5396 was86. 3% in GDM mothers group, which was significantly increased compared with that of the controlmothers group (70. 7% , P<0. 05); (2) There was no statistical difference in the frequency of A alleleor genotype between the mothers (85. 3%) and their fetuses (80. 8%) in the control group, betweenthe GDM mothers(93.1%) and their fetuses (87.0%), nor between the control fetuses and GDMfetuses group (P a11>0.05). (3) There was no statistical difference in the proportion of AA-AAmother-fetus genotype pairs between the GDM and control group (50. 0% vs 55. 0%, P = 0. 720).Conclusions rs5396 polymorphism in SLC2A2 gene of pregnant women may contribute to the genesisof GDM, but no evidence shows that the fetal polymorphism in this gene is associated with GDM.
Keywords:Diabetes  gestational  Genetic predisposition to disease  Polymorphism  single nucleotide  Glucose transporter type 2  Genotype
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