目的 探讨ApoE基因多态性与唐氏综合征发病风险的相关性.方法 采用多重特异性扩增突变系统快速分型法检测80名唐氏综合征初筛高危孕妇,80名初筛低危孕妇和80名正常非孕对照女性的ApoE基因多态性,同时用化学发光法检测血清AFP,β-HCG和uE3,并对不同组基因型、等位基因频率及血清学标志物进行比较.结果 ①高危组、低危组AFP,β-HCG,uE3均明显高于对照组(P＜0.01)；与低危组相比,高危组AFP(15.43±15.26 μg/L),uE3(0.73±0.35ng/ml)明显降低(P＜0.01),β-HCG(45.01±35.63 μg/L)明显增高(P＜0.01),孕妇年龄(30±5岁)明显增大(P＜0.01).②经x2检验,不同ApoE基因型及等位基因在DS高危组、低危组及对照组分布差异无统计学显著性意义(P＞0.05).③经logistic分析ApoE E3等位基因与β-HCG升高,uE3降低,高龄对唐氏综合征风险交互作用差异有统计学显著性意义(P＜0.05),A值分别为422.9,12.08和22.72.结论 ApoE基因多态性不是唐氏综合征高危的风险因子,但E3等位基因与血清β-HCG,uE3水平,孕妇年龄的交互作用可能与唐氏综合征高危风险有关.%Objective To explore the relationship between Maternal ApoE gene polymorphisms and Down's syndrome (DS) risk. Methods Multiplex amplification refractory mutation system was used for identifying the ApoE gene polymorphisms of 80 pregnant women with high DS risk,80 with low DS risk after DS prenatal screening and 80 non-pregnant healthy women (Control). Meanwhile,chemoluminescence immunoassay was applied to detect the AFP,β-HCG and uE3 concentration in serum. Finally, ApoE genotype and allele frequencies were compared in different groups. Results ①The concentration of AFP,β-HCG and uE3 in different groups showed statistical differences: the serum levels of AFP,β-HCG and uE3 in both high risk and low risk groups were higher than those in controls (P<0. 01). Comparing with in low risk group, pregnant women in high risk group showed lower levels of AFPC15. 43 ± 15. 26 μg/L) as well as uE3 (0. 73 ± 0. 35 ng/ml) ,higher level of β-HCG(45. 01 ± 35. 63 μg/L) and higher age (P<0. 01). ②There were no significant differences on ApoE genotype and allele frequencies in different groups after chi-square analysis(P>0. 05). ③The binary logistic analysis showed a significant interaction between ApoE gene alleles and β-HCG, uE3 and age ( P<0. 05) and the A value were as follow: 422. 9, 12. 08 and 22. 72. Conclusion ApoE polymorphism may not be the risk factor of DS high risk,but the interaction between E3 allele and β-HCG,uE3 and age may be associated with DS high risk.
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