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目的探讨儿童孤独症与儿茶酚氧位甲基转移酶(COMT)基因多态性的关系。方法应用聚合酶链反应和限制性片段长度多态性技术,检测67例孤独症患儿(孤独症组)及其父母(父母组)的COMT基因多态性,采用传递不平衡检验(TDT)方法分析儿童孤独症核心家系COMT基因与孤独症的关系。结果(1)孤独症组COMT基因A/A基因型频率(4.5%)高于父母组(0例),A/G基因型频率(26.9%)低于父母组(38.5%),G/G基因型频率(68.7%)也高于父母组(61.5%),差异有统计学意义(χ2=6.593,P<0.05)。(2)TDT检验未发现孤独症与COMT基因相连锁(P>0.05)。结论孤独症患儿组与父母组的COMT基因多态性的差异存在统计学意义,未发现COMT基因与孤独症的发病存在传递不平衡,COMT基因可能是孤独症的易感基因。
Objective To explore the relationship between autism and catechol oxygen methyltransferase (COMT) gene polymorphism in children. Methods Polymorphisms of COMT gene in 67 children with autism (autism group) and their parents (parent group) were detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Transmission disparity test (TDT) Methods To analyze the relationship between autism core gene family COMT gene and autism in children. Results The frequency of A / A genotype (4.5%) in COMT gene group was higher than that in parental group (0 case), the frequency of A / G genotype (26.9%) was lower than that of parents group (38.5%), G / G The genotype frequency (68.7%) was also higher than that of the parent group (61.5%), the difference was statistically significant (χ2 = 6.593, P <0.05). (2) TDT test found no linkage between autism and COMT gene (P> 0.05). Conclusions The polymorphism of COMT gene in children with autism and that of parents is statistically different. There is no imbalance in the distribution of COMT gene and autism. COMT gene may be a susceptible gene in autism.