妊娠期高血压疾病患者胎盘组织中ApoE、LPL ser447stop基因多态性检测及意义

目的检测妊娠期高血压疾病(HDP)患者胎盘组织中载脂蛋白E(ApoE)及脂蛋白脂酶(LPL)第9外显子(ser447stop)基因多态性,并探讨其临床意义。方法采用multi-ARMS PCR及PCR-RFLP方法,分别检测36例妊娠期高血压患者(A组)、94例子痫前期患者(B组)及130例正常妊娠妇女(C组)胎盘组织中的ApoE及LPLser447stop基因多态性。结果 A组ApoE2/3、E2/4、E3/3、E3/4及E4/4基因表型频率分别为25.00%、0、50.00%、22.22%、0,B组分别为19.15、0、56.38、24.47%、1.06%,C组分别为14.61%、3.08%、76.92%、5.38%、0.77%。A、B组E3/3、E3/4基因型与C组比较,P均<0.01。A组ApoE等位基因ε2、ε3、ε4频率分别为12.50%、73.61%、11.11%,B组分别为9.57%、78.19%、13.30%,C组分别为8.46%、86.54%、5.00%。A、B组ApoE等位基因ε3、ε4与C组比较,P均<0.05。共检测到3例LPL ser447stop杂合子变异,其中B组2例,C组1例。各组间比较,P均>0.05。结论 HDP患者胎盘组织中ApoE3/4基因表型、ApoEε4等位基因频率增高,ApoEε3等位基因频率降低;ApoE3/4基因表型可能是HDP的危险因素,ApoEε4等位基因可能是HDP的遗传易患因子,而ApoEε3等位基因则具有保护作用。LPL ser447stop基因多态性可能与HDP的发生无关。

Study of the relationship between apolipoprotein E gene and lipoprotein lipase gene (ser447stop)polymorphisms and hypertensive disorder complicating pregnancy

Objective To investigate the relationship between apolipoprotein E(ApoE) gene and the sepuence of exon 9 of lipoprotein lipase(LPL) gene(ser447stop) polymorphisms and hypertensive disorder complicating pregnancy.Methods Multiplex amplification refractory mutation system PCR(multi-ARMS PCR) and PCR-restriction fragment length polymorphism(PCR-RFLP) analysis were conducted to examina ApoE and LPL(ser447stop) polymorphisms distribution with 36 gestational hypertension patients(group A)、 94 pre-eclampsia patients(grouop B)and 130 normal pregnancies(group C).Results Group A ApoE2/3,E2/4,E3/3,E3/4 and E4/4 phenotype frequencies were 25.00%,0,50.00%,22.22%,and 0,respectively,for 19.15,0,56.38,24.47%,1.06%,group C were 14.61%,3.08%,76.92%,5.38%,0.77%.E3/3 and E3/4 in the group A and group B were all lower than group C(P<0.01);The allele frequency ApoE alleles ε2,ε3,and ε4 in the group A were 12.50%,73.61%,11.11%,that in the group B were 9.57%,78.19%,13.30%,and that in group C were 8.46%,86.54%,5.00%.The allele frequency ApoE ε3 andε4 in the group A and B,were all lower than the group C(P<0.05);Three mutation were detected in the all the groups,that were 2 in group B and 1 in group C.Conclusion The ApoE3/4 genotype and the ApoE ε4 allele frequency increased,but the ApoEε3 allele frequency is reduced in the hypertensive disorder complicating pregnancy.The ApoE3/4 genotype and ApoE ε4 allele is the risk factor of hypertensive disorder complicating pregnancy but the ApoE ε3 allele may be have the function of protecting.The variation of LPL gene(ser447stop) may be have no association with the hypertensive disorder complicating pregnancy.