胎儿生长受限母亲及新生儿低密度脂蛋白受体基因多态性研究

目的:探讨低密度脂蛋白受体(LDL-R)基因在胎儿生长受限(FGR)母亲及新生儿中的多态性分布以及对母婴血脂的影响。方法:采用聚合酶链式反应-限制片段长度多态性技术(PCR-RFLP)检测57例FGR新生儿(A1组)和57例同期出生正常体重新生儿(A2组)脐血及其母亲(B1组,B2组)外周静脉血LDL-R基因13外显子AvaⅡ位点多态性分布频率。结果:①A1组A+/+基因型频率为19.3%,显著高于其他3组(P<0.05)。A1组A+等位基因频率为29.8%,显著高于A2、B2组(P<0.05)。②A1与A2组,B1与B2组血脂水平比较差异无统计学意义(P>0.05)。与A1、A2组相比,B1、B2组血脂水平显著增高(P<0.05)。③各组内A+/+基因型个体TC、LDLC水平均显著高于A-/-基因型个体(P<0.05)。④相关分析发现,A1与B1组、A2与B2组间血脂水平无相关性。结论:FGR新生儿A+等位基因频率增高;脐血脂水平与妊娠母亲血脂水平无关,而与LDL-R基因多态性相关;拥有A+等位基因的新生儿发生高脂血症的风险增高。

Analysis on polymorphism of low density lipoprotein -receptor gene in neonates with fetal growth restriction and their mothers

Objective:To explore the polymorphism of low density lipoprotein-receptor(LDL-R)gene in neonates with fetal growth restriction(FGR)and their mothers and its effect on lipid level in serum.Methods:The polymorphism of AvaⅡ locus of LDL-R gene from umbilical cord blood of 11 FGR neonates(A1 group)and 27 healthy neonates(A2 group)and venous blood of their mothers(B1 group,B2 group)were detected by PCR-RFLP.Results:①The frequency of A+/+ genotype in A1 group was 19.3%,which was higher than those in the other 3 groups(P<0.05).The frequency of A+ allele in FGR group was 29.8%,which was higher than those in A2 group and B2 group(P<0.05).②No difference was found in lipids level in serum between A1 and A2 groups,B1 and B2 groups(P>0.05).But the lipids levels of B1 group and B2 group were higher than those of A1 group and A2 group(P<0.05).③The TC,LDLC levels of four groups with A+/+ genotype were significantly higher than those with A-/-genotype(P<0.05).④No correlation was found in lipids level in serum between neonates and their mothers.Conclusion:The frequency of A+ allele in FGR neonates is rising;there is no correlation between lipids level of umbilical cord and lipids level of their maters,but can be affected by the polymorphism of LDL-R,the neonates with A+ alleles maybe have a high risk for hyperlipidemia.