探讨SLC25A12基因多态性与孤独症谱系障碍的关系研究

Study on the relationship between SLC25A12 gene polymorphism and autistic pedigree disorder

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DOI
刊名
Journal of International Psychiatry
年,卷(期) 2018, 45(6)
作者
作者单位

广东三九脑科医院心理科 ;

摘要
【摘 要】 研究SLC25A12基因多态性与孤独症谱系障碍的关系。方法 随机选取2015年5月至2017年5月我院收治的孤独症谱系障碍患儿50例(100例父母),运用常规酚/氯仿/乙醇法提取基因组DNA,将人群中多见的SNP位点从NCBI的dbSNP数据库中选取出来,同时将对SNP进行扩增的引物设计出来,进行PCR扩增及SSCP分析,然后对SLC25A12基因2个SNPs的基因型及等位基因频率、2个SNPSs等位基因进行统计分析。结果 SSCP分析结果表明,基因型不同,其显示出来的条带就不同,SLC25A12基因在4℃的温度下降其基因型所特有的条带显示出来。Hardy Weinberg平衡检验50例孤独症家庭的2个SNP的基因型及等位基因分布情况,发现Rs3770448基因型及等位基因分布均和Hardy Weinberg平衡定律相互(P>0.05);传递不平衡检验结果表明,50例孤独症家庭的SLC25A12基因的2个SNPs均有连锁不平衡存在,即Rs3770448和孤独症致病基因座不连锁,杂合子父母向患病子女传递的致病等位基因的频率没有偏离50%。结论 SLC25A12基因多态性与孤独症谱系障碍无相关性,需要相关医学学者进一步研究孤独症的病因基因。
Abstract
[Abstract] Objective To study the relationship between SLC25A12 gene polymorphism and autistic spectrum disorders. Methods 50 cases of children with autism (100 parents) from May 2015 to May 2017 in our hospital were randomly selected, the genomic DNA was extracted by conventional phenol / chloroform / ethanol, SNP was seen in the crowd out of the NCBI dbSNP database was selected, and was designed to expand the primer on SNP analysis PCR amplification and SSCP, and 2 of SLC25A12 gene SNPs genotype and allele frequency, 2 SNPSs alleles were analyzed. Results The results of SSCP analysis showed that the bands displayed different genotypes, and the SLC25A12 gene decreased at the temperature of 4 C, showing the specific bands of genotype. Hardy Weinberg balance test the distribution of 2 SNP in 50 cases of autism family genotype and allele, Rs3770448 genotype and allele distribution and Hardy Weinberg equilibrium (P>0.05); mutual transmission disequilibrium test results showed that 2 SNPs were linkage disequilibrium of SLC25A12 gene in 50 cases of autism in the family the Rs3770448 and autism candidate loci in linkage, heterozygous parents transfer to the sick children of the pathogenic allele frequencies did not deviate 50%. Conclusion There is no correlation between the polymorphism of SLC25A12 gene and autistic spectrum disorders. It is necessary for the relevant medical scholars to further study the etiological genes of autism.
关键词
【关键词】SLC25A12基因多态性;孤独症谱系障碍;关系
KeyWord
[Key words] SLC25A12 gene polymorphism; Childhood autism; Relationship
基金项目
页码 1057-1059
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温友禄*,邓小亮,温金峰,宁连才. 探讨SLC25A12基因多态性与孤独症谱系障碍的关系研究 [J]. 国际精神病学杂志. 2018; 45; (6). 1057 - 1059.

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