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SLC25A12及SCN2A2基因多态性与孤独症的关系 被引量：4

Association between SLC25A12 and SCN2A2 gene polymorphisms and autism
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摘要 目的:探讨SLC25A12和SCN2A2基因单核苷酸多态性(SNPs)与孤独症的关系。方法:从日本孤独症患儿和其健康父母组成的105个核心家系取全血提取基因组DNA,应用PCR-SSCP法检测SLC25A12和SCN2A2基因位点rs3770448和rs3769955的单核苷酸多态性的分布。结果:rs3770448、rs3769955基因型频率的分布均符合Hardy-Weinberg平衡;传递不平衡检验(TDT)结果显示,父母和受累子女之间不存在显著的传递不平衡(χ2=1,P>0.05;2χ=0.604,P>0.05),即杂合父母传递给受累子女的等位基因无差异。结论:SLC25A12基因位点rs3770448和SCN2A2基因位点rs3769955可能与孤独症无关,但尚不能排除该基因其他SNPs与孤独症相关联的可能性。 Objective To investigate the association SLC25A12 and SCN2A2 gene single nucleotide polymorphisms （SNPs） and susceptibility to autism among 105 Japanese family trios consisting of fathers, mothers, and affected offsprings with autism. Methods Genomic DNA was isolated from the whole blood samples. The PCR-single stranded conformational polymorphism （SSCP） technique was used to test genotype of SNPs （rs3770448, rs3769955） at SLC25A12 and SCN2A2 genes. Results The distrihutions of genotypic and aIIeIic frequencies of rs3770448 and rs3769955 were not deviated from the Hardy-Weinberg equilibrium. The results of transmission disequilibrium test （TDT） indicated that the allelic frequency transmitted from the heterozygote parents didn＇t deviate 50%. Conclusion The polymorphism of rs3770448 in the SLC25A12 and rs3769955 in the SCN2A2 locus may not be associated with autism. But the association of the other SNPs at the SLC25A12 and SCN2A2 locus with the illness can not be ruled out.
作者 延正红 邢杰 罗海英 杨同书 坂本裕美子 难波荣二
机构地区 吉林大学第二医院儿童保健科 吉林大学再生医学科学研究所生物化学研究室 日本鸟取大学遗传子探索
出处 《吉林大学学报（医学版）》 CAS CSCD 北大核心 2006年第2期313-315,共3页 Journal of Jilin University：Medicine Edition
基金 日本笹川医学奖学金资助课题(2004)
关键词 孤独性障碍 多态性 单核苷酸 多态性 单链构象 传递不平衡检验 autistic disorder polymorphisms, single nucleotide polymorphism, single stranded conformational transmission disequilibrium test
分类号 Q347 [生物学—遗传学]
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参考文献11

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共引文献2

同被引文献30

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引证文献4

二级引证文献10

吉林大学学报（医学版）
2006年 第2期

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