BDNF基因功能性多态rs6265与孤独症儿童的相关性研究

The correlation between functional polymorphism of BDNF gene(rs6265) and autistic children

目的探讨脑源性神经营养因子(BDNF)基因功能性多态(rs6265)与孤独症儿童(AC)发病的相关性。方法各选取68例AC患儿(AC组)与健康儿童(对照组),用聚合酶链反应-限制性片段长度多态性技术,对BDNF基因rs6265,进行基因型检测,同时利用酶联免疫吸附技术对两组对象的血清BDNF水平进行检测。结果不同病情程度的AC患儿之间的等位基因(χ2=10.6736,P=0.0048)及基因型(χ2=0.9665,P=0.041)的分布差异有显著性;AC患儿的血清BDNF水平高于对照组的,而且AC患儿的AA基因型的患者的血清BDNF水平最低[(25.27±10.42)ng/mL,F=4.4363,P=0.013]。结论 BDNF基因功能性多态rs6265与AC发病相关,并且影响其血清BDNF的表达。

[ Objective ] To explore the relationship between a functional polymorphism of BDNF gene（rs6265）and autistic children（AC）. [Methods] 68 cases of AC（AC group）and health children（control group）were selected respectively. Then the genotype was detected via polymerase chain reaction-restriction fragment length polymorphism and serum levels of BDNF were detected by Enzyme-linked Immunosorbent Assay in all cases. [Results] It was significantly difference in the distributions of alleles （X2=10.6736, P =0.0048） and genotypes （x^2=0.9665, P =0.041）among the different severity extent in case of AC group. The serum levels of BDNF were higher in AC group than in control group, and lowest for case of AA genotypes in autistic children [（14.32±4.21）ng/mL, F =7.2545, P =0.0016]. [ Conclusion] The functional polymorphism of BDNF gene（rs6265） wascorrelated with pathogenesis of AC and affected the expression of BDNF in serum.