摘要
目的探讨FOXP2基因的2个单核苷酸多态性(SNPs)位点rs121908377、rs121908378与高功能孤独症儿童之间的相关性。方法方便选取2016年1月—2017年1月在该院儿童保健科确诊的100例高功能孤独症儿童(病例组)及同期在儿童保健科体检中心体检的120名身体及精神均健康儿童(对照组),应用基因芯片及PCR-测序方法对病例组及对照组的rs121908377、rs121908378位点进行基因分型,对所获分型数据进行病例对照关联分析。结果从病例组中随机选取的高功能孤独症儿童的基因芯片结果为阴性,病例组FOXP2基因的2个SNPs的基因型频率为0.960、0.970,对照组的2个SNPs基因频率为0.958、0.958,分布均未偏离哈德温伯格平衡(P>0.05);FOXP2基因的rs121908377、rs121908378位点的基因型频率在病例与对照间比较差异无统计学意义(P>0.05)。结论 FOXP2基因的rs121908377、rs121908378位点的单核苷酸多态性与高功能儿童孤独症不相关。
Objective This paper tries to explore the correlation between the rs121908377, rs121908378 SNPs of the FOXP2 gene and the high functioning autism. Methods From January 2016 to January 2017, 100 children with high functioning autism（the case group） and 120 normal children both physically and mentally healthy in the same period（the control group） were convenient selected from this hospital. The rs121908377, rs121908378 SNPs of FOXP2 was genotyped by PCR-Sequencing in individuals with high functioning autism and normal subjects. A correlation study was performed by using the data of genotyping. Results The results of the gene chip of the highly functional autistic children randomly selected from the case group were negative, the frequencies of two SNPs in the genotypes were 0.960 and 0.970 in the case group,0.958 and 0.958 in the control group, all were in Hardy-Weinberg equilibrium（HWE）（P〉0.05）. There were no significant differences in allele frequency of the FOXP2 gene of rs121908377, rs121908378 between the high functioning autisms group and normal control group（P〉0.05）. Conclusion The SNPs of rs121908377, rs121908378 of FOXP2 gene were not associated with high functioning autism.
出处
《中外医疗》
2017年第29期1-3,共3页
China & Foreign Medical Treatment
基金
湖南省卫计委资助项目(B2016-182)
