唐氏综合征产前筛查与MTHFRC677T基因多态性相关性研究  

Investigation of Relationship between DS Prenatal Screening and MTHFRC677T Gene Polymorphism

作　　者：刘薇[1] 尹志农[2] 程珍[2] 王俊文[2] 

机构地区：[1]河北医科大学,石家庄050017 [2]清华大学附属北京市垂杨柳医院实验中心,北京100022

出　　处：《现代检验医学杂志》2012年第5期15-17,21,共4页Journal of Modern Laboratory Medicine

摘　　要：目的探讨唐氏综合征发病风险与亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性的相关性。方法聚合酶链反应-限制性内切酶片段长度多态性（PCR-RFLP）法检测84名唐氏综合征初筛高危孕妇，100名低危孕妇和80名对照组正常非孕女性的MTHFRC677T基因多态性；同时用化学发光法检测血清AFP，pHCG和uE3水平。比较不同组基因型、等位基因频率及血清标志物水平。结果①经x2检验高危组、低危组、对照组MTHFRC677T不同基因型及等位基因频率差异无统计学意义（x^2分别为0．140，0．021；P值均〉0．05）。②高危组、低危组AFP，β-HCG和uE3水平均明显高于对照组（P〈0．01）；高危组AFP（22．79±18．27μg／L），uE3（0．80±0．41g／L）含量明显低于低危组（￡值分别为2．721，8．849；P值均〈0．01），而pHCG（52．26士33．34μg／L）及年龄（30±5）岁则明显高于低危组（￡值分别为9．031，4．976，P均〈0．01）。③经logistic分析，年龄，pHCG，AFP，uE3与唐氏综合征高危风险相关（P均〈0．01），OR值分别为：20．690，80．553，2．887和3．785。结论MTHFRC677T基因多态性与唐氏综合征高危风险无相关性。年龄以及血清AFP，β-HCG，uE3水平对唐氏综合征风险判定影响程度不同，其中高pHCG对唐氏综合征高危危险性最大。Objective To explore the relationship between Down＇s syndrome （DS） risk and maternal MTHFR C677T gene polymorphisms. Methods Polymerase chain reaction-restricted fragment length polymorphism （PCR-RFLP） was explored to detect MTHFR C677T gene polymorphisms of 84 pregnant women with high DS risk, 100 with low DS risk after DS pre- natal screening and 80 non-pregnant healthy women（Control）. Meanwhile,the AFP,β-HCG and uE3 concentration in serum were detected by chemoluminescence immunoassay. Finally, MTHFR C677T genotype and allele frequencies and serum marker concentrations were compared in different groups. Results O There was no statistical differences on MTHFR C677T genotype and allele frequencies in different groups （x^2 was 0. 140 and 1. 017,respectively;P〉0.05,both）. （2）The se- rum level of AFP,β-HCG and uE3 in both high risk and low risk groups were higher than those in controls （P〈0. 01）, Compared with in low risk group,pregnant women in high risk group showed lower serum levels of AFP （22.79 ± 18.27 μg/L） as well as uE3 （0.80±0.41 ng/ml） （Z2 was 2. 721 and 8. 494, respectively; P（0.01, both）, higher level of 13-HCG （52. 264-33.34 μg/L） and higher age （30±5） （x^2 was 9. 031 and 4. 976 ,respectively;P（0. 01 ,both）. （3）The age,level of β- HCG,AFP and uE3 were related with high DS risk （P〈0.01,all）,OR values were as follow：20. 690,80. 553,2. 887 and 3. 785. Conclusion MTHFR C677T polymorphism would not be the risk factor of DS high risk. The influence of age and concentration of AFP, β-HCG and uE3 on judgement of DS risk may different and risk of high β-HCG level was the highest.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 唐氏综合征 

分 类 号：R722.11[医药卫生—儿科] Q786[医药卫生—临床医学]