孤独症儿童亚甲基四氢叶酸还原酶基因C677T多态性分析

中国儿童保健杂志 ›› 2012, Vol. 20 ›› Issue (7): 585-587.

孤独症儿童亚甲基四氢叶酸还原酶基因C677T多态性分析

赵栋,夏薇,孙彩虹,李楠楠,吴坤

哈尔滨医科大学公共卫生学院,黑龙江哈尔滨 150081

收稿日期:2012-03-21 发布日期:2012-07-06 出版日期:2012-07-06
通讯作者: 吴坤,E-mail:wukun_15000@126.com
作者简介:赵栋(1986-),男,山东人,在读硕士研究生,主要研究方向为营养与慢性病
基金资助:
国家自然科学基金课题(81072298)

Association methylenetetrahydrofolate reductase gene C677T polymorphism with autism children

ZHAO Dong,XIA Wei,SUN Cai-hong,LI Nan-nan,WU Kun.

Public Health Institute of Harbin Medical University,Harbin,Heilongjiang 150081,China

Received:2012-03-21 Online:2012-07-06 Published:2012-07-06

摘要/Abstract

摘要： 【目的】探讨孤独症儿童亚甲基四氢叶酸还原酶(methylenetetra-hydrofolate reductase,MTHFR)基因C677T多态性,为孤独症病因的寻找提供实验依据。【方法】采用限制性片段长度多态性聚合酶链反应(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)和基因测序的方法,对98例孤独症儿童与性别年龄匹配的70例对照组儿童的MTHFR基因C677T多态性进行分析。【结果】病例组(TT和CT为突变基因型)突变率为46.9%,对照组(TT和CT)突变率为14.3%,差异有统计学意义(χ²=19.59,P<0.005)。病例组与对照组的C、T等位基因频率相比差异有统计学意义(χ²=24.38,P<0.0005)。对病例组与对照组的基因型突变率差异进行多重比较,TT基因型和CT基因型的突变率与CC基因型相比差异均有统计学意义(χ²=10.12和19.76,P均<0.0125),而TT基因型突变率与CT基因型突变率在病例组和对照组中的分布无统计学意义(P>0.0125)。【结论】 MTHFR基因C677T突变可能是儿童孤独症发病的遗传危险因素。

关键词: 孤独症, 亚甲基四氢叶酸还原酶, 基因突变

Abstract: 【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

中图分类号:

R749.94

赵栋,夏薇,孙彩虹,李楠楠,吴坤. 孤独症儿童亚甲基四氢叶酸还原酶基因C677T多态性分析[J]. 中国儿童保健杂志, 2012, 20(7): 585-587.

ZHAO Dong,XIA Wei,SUN Cai-hong,LI Nan-nan,WU Kun. Association methylenetetrahydrofolate reductase gene C677T polymorphism with autism children[J]. journal1, 2012, 20(7): 585-587.

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