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儿茶酚-O-甲基转移酶(catechol-O-methyltransferase,COMT)是儿茶酚胺类神经递质的主要代谢酶。COMT是儿茶酚-O-甲基转移酶的编码基因,其第4外显子的一个G/A转换可产生不同活性的等位基因。许多遗传学研究报道,这种功能多态性与人类精神类疾病相关。文章利用PCR扩增技术和限制性片段长度多态(Restrictionfragmentlengthpolymorphism,RFLP)方法,研究中国秦巴山区精神发育迟滞(MentalRetardation,MR)儿童与正常对照儿童的COMT基因功能多态情况,探讨COMT基因功能多态性与儿童认知能力水平的相关性。病例-对照分析结果显示,COMT基因的不同活性等位基因型与秦巴山区儿童MR无相关性(χ2=0.776,P>0.05),其等位基因频率与儿童MR也未呈现出相关性(χ2=0.335,P>0.05)。但是,在研究中还发现,该地区智商分(IQ)不小于55分的儿童群体中,COMT基因的多态性分布与儿童的智力呈现出相关的趋势。在智力正常组儿童中(IQ≥85),COMT高活性等位基因纯合体(COMTHH)频率及其等位基因(COMTH)频率较高,分别为60.98%、79.28%。在智力边缘组儿童(70≤IQ<85)中,其频率分别为46.67%、70.67%,相应地也低于正常组的频率(0.10>P>0.05)。结果提示,在中国秦巴山区人群中,COMT基因的功能多态性与儿童MR的形成无明显相关性,但它对正常儿童的认知能力可能有一定影响。
Catechol-O-methyltransferase (COMT) is the main metabolic enzyme of catecholamine neurotransmitter. COMT is a gene encoding catechol-O-methyltransferase and a G / A transition of exon 4 of it produces different active alleles. Many genetic studies have reported that this functional polymorphism is associated with human psychiatric disorders. In this paper, COMT gene polymorphisms in Mental Retardation (MR) children and normal control children in Qinba mountain area of China were studied by PCR amplification and restriction fragment length polymorphism (RFLP), and the effects of COMT gene function Correlation between Polymorphism and Children ’s Cognitive Ability. Case-control analysis showed that there was no correlation between different active alleles of COMT gene and MR in children in Qinba Mountains (χ2 = 0.776, P> 0.05). The allele frequency was not correlated with MR in children χ2 = 0.335, P> 0.05). However, in the study, it was also found that the distribution of COMT polymorphism in children with IQ of not less than 55 in this area showed a tendency related to the intelligence of children. In normal children (IQ≥85), the frequency of COMTH and its COMTH frequency were higher (60.98% and 79.28%, respectively). In the children with intelligence marginal group (70≤IQ <85), the frequency was 46.67% and 70.67% respectively, which was also lower than that of normal group (0.10> P> 0.05). The results suggest that there is no significant correlation between functional polymorphism of COMT gene and children’s MR formation in the population of Qinbal Mountains in China, but it may have some influence on normal children’s cognitive ability.