胎儿生长受限新生儿脐血载脂蛋白E和低密度脂蛋白受体基因多态性分布频率的研究

Study on the effect and distribution of apolipoprotein E and low density lipoprotein-receptor gene in FGR newborn

目的探讨脐血载脂蛋白E(ApoE)、低密度脂蛋白受体(LDL-R)基因多态性与胎儿生长受限(FGR)对汉族新生儿血脂的相互影响。方法采用病例-对照研究方法,取57例FGR新生儿及57例同期出生正常体重新生儿脐血,用等位基因特异性多重聚合酶链反应技术(mμlti-ARMS)检测ApoE基因多态性,用聚合酶链式反应-限制片长多态性技术(PCR-RFLP)检测LDL-R基因AvaII位点多态性,同时检测血脂水平。结果(1)共检测到4种ApoE基因型,E2/2,E4/4未检测到。FGR组ApoE3/4基因型(17.5%)和ε4等位基因型(13.2%)频率显著高于对照组(8.8%,7.9%,P<0.05);FGR组LDL-R AvaII(+/+)基因型频率(19.3%)显著高于对照组(10.5%)(P<0.05),两组间A+和A-等位基因频率比较差异无显著性(P>0.05)。(2)两组血脂水平比较差异无显著性(P>0.05)。(3)在两组中,ApoE3/4基因型个体TC和LDL水平显著高于ApoE2/3基因型个体(P<0.05)。(4)在两组中,AvaII(+/+)基因型个体TC和LDL水平显著高于AvaII(-/-)基因型个体(P<0.05)。(5)同时拥有ApoE3/4和AvaII(+/+)基因型者TC和LDL水平较高,而同时拥有ApoE2/3和AvaII(-/-)基因型者血胆固醇值均较低。结论ApoE和LDL-R基因可能独立的影响脐血脂水平,新生儿中存在ε4或/和A+等位基因的个体发生高脂血症的风险增高。

Objective： To investigate the relationship between the ApoE and LDL- R geneticpolymorphism in newborn＇s umbilical cords and their interaction wirh FGR in the serum lipid levels in Hans of Chinese. Methods ： The blood samples were collected froml 1 FGR and 27 normal newborn＇s umbilical cords. The ApoE genotype was identified by the mμltiplex amplification refractory mutation system PCR （ mtμlti - AMRS） and LDL - R Avail polymorphisms were examined by polymerase chain reaction - restriction fragment length polymorphism （ PCR- RFLP）. Resμlts： （1） For the ApoE gene, E2/2, E4/4 were not detected , In the FGR group, the frequencies of E3/4genotype andε4 allele were 17. 5% and 13.2% respectively, both significantly higher than those in the controμl group （8.8% and 7. 9% respectively, both P 〈0. 05） ; so as the AvaII（ ＋/＋ ） , no difference was found in the frequencies of A ＋ and A - alleles . （2） No difference was found in the levels of serum lipid between FGR and controμl group, （ all P 〉 0. 05 ）. （ 3 ） In the two groups , the levels of TC and LDL in the cases who with ApoE3/4 genotype were significantly higher than the one with ApoE2/3 （ P 〈0. 05）. （4） The levels of TC and LDL in the cases who with AvaII （ ＋/＋ ） genotype were also significantly higher than the one with Avail （-/-） （P 〈0.05）. （5） The level ofTC, LDLin the cases who have ApoE3/4 and Avail （＋/＋） were higher than that in whom have ApoE2/3 and AvaII （ - / - ）. Conclusion ： It is possibe that the polymorphism of ApoE and LDL - R affected the level of newborng umbilical cords respectively. The newborns who have ε-4 or/and A ＋ alleles maybe have a high risk for hyperlipidemia.