摘要
目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C多态性与儿童孤独症的关系,为相关领域的理论研究提供依据。方法采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)和基因测序方法,对200例孤独症儿童与性别年龄匹配的200例对照组儿童MTHFR基因C677T和A1298C多态性进行分析。结果在MTHFR基因C677T位点突变中,病例组突变率为54.5%,对照组突变率为28.0%,差异有统计学意义(χ2=28.97,P<0.05)。病例组T等位基因频率明显高于对照组(χ2=44.90,P<0.05)。对病例组和对照组的基因型突变率进行多重比较,病例组的TT基因型和CT基因型的突变率均高于对照组(χ2值分别为27.00,12.89,P值均<0.012 5)。在MTHFR基因A1298C位点突变中,病例组突变率为28.0%,对照组突变率为17.0%,差异有统计学意义(χ2=6.94,P<0.05)。病例组C等位基因频率高于对照组(χ2=18.32,P<0.05)。对病例组和对照组的基因型突变率进行多重比较,病例组的CC基因型的突变率高于对照组(χ2=13.07,P<0.012 5),而病例组AC基因型的突变率与对照组之间差异无统计学意义(χ2=0.02,P>0.012 5)。在MTHFR基因两位点的联合作用中,677CT-1298CC两位点联合突变对孤独症的影响要比677CC-1298CC,677CT-1298AA,677TT-1298AA单独位点突变影响大。结论 MTHFR基因C677T和A1298C突变可能是儿童孤独症发病的遗传危险因素,且在两位点突变联合作用中,C677T突变对孤独症的影响比A1298C突变明显。
Objective To explore the association between both MTHFR C677T and A1298C polymorphism and autism sus- ceptibility. Methods The case-control study was designed. A total of 200 children with autism and 200 randomly selected controls were matched by the age and sex. Analysis of the polymorphism was done by using the polymerase chain reaction-restriction frag- ment length polymorphism （PCR-RFLP） method and confirmed by direct sequencing. Results In the MTHFR C677T point, 54.5% mutation in the case group vs. 28.0% mutation in the control group was found with significance （X2 =28.97,P〈0. O1 ）. The frequencies of T allele in the case group was significantly higher than the control group （X2 = 44.90, P〈O. 005 }. Partitions ofxz method were used to analyze the rate of genotype mutation between the case group and control group, both TI＂ and CT genotypes mu- tation rate showed statistically significant difference when they were compared with CC genotype （2＂2 = 27.00, P〈0.0125 ;22 = 12.89, P〈0. 0125}. In the MTHFR A1298C Point, the rate of mutation in the case group { 28.0% ） was significantly higher than that in the control group （ 17.0% ） （X2 =6.94 ,P〈0.05 }. The frequencies of C allele in the case group was significantly higher than those in the control group（2＂2 = 18.32,P〈0.05）. Partitions ofx2 method were used to analyze the rate of genotype mutation between the case group and control group, the rate of CC genotype mutation in the case group was significantly higher than in the control group （X2 = 13.07 ,P〈0. 0125 ）. But there was no significant difference between the case group and the control group for the AC genotype （X2 =0.02 ,P〉0. 0125}. Joint analysis of the two locus of MTHFR gene suggested that there was increased risk of autism for indi- viduals carrying both mutational genotype of 677CT and mutational genotype of 1298CC compared with subjects carrying single mu- tational genotype of A1298C or C677T. Conclusion These findings indicate that the mutational genot
出处
《中国学校卫生》
CAS
北大核心
2013年第1期52-55,58,共5页
Chinese Journal of School Health
基金
国家自然科学基金课题(81072298)
关键词
多态性
单核苷酸
基因
孤独性障碍
儿童
Polymorphism, single nucleotide
Genes
Autistic disorders
Child
