【Objectives】 To analyze the association between MTHFR C677T polymorphism and autism susceptibility. 【Methods】 A total of 98 cases with autism and 70 controls which randomly selected were matched with the age and sex.Analysis of the polymorphism was done using the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)method and confirmed by direct sequencing. 【Results】 The rate of mutation(TT and CT genotype)in the case group(46.9%) was significantly higher than control group(14.3%)(χ2=19.59,P<0.005).There was significant difference of C allele and T allele frequencies between the case group and the control group(χ2=24.38,P<0.0005).Partitions of χ2 method was used to analyze the rate of genotype mutation between the case group and control group,both TT and CT genotypes mutation rate showed a significant statistic difference when they compared with CC genotype(χ2=10.12,19.76,P all<0.0125); the rate of mutation of CT genotype and TT genotype showed no difference(P>0.0125). 【Conclusions】 These findings indicate that the polymorphisms of MTHFR C677T genes may be a risk factor for autism.
Key words
autism /
methylenetetrahydrofolate reductase /
gene mutation
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