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目的探讨参与褪黑素合成的乙酰血清素甲基转移酶(acetylserotonin methyltransferase,ASMT)基因启动子和第1外显子区遗传多态性位点与儿童孤独症是否关联。方法对390例儿童孤独症患者和420例正常对照者的ASMT基因启动子和第1外显子区域进行测序。比较该区域5个单核苷酸多态性(single nucl-eotide polymorphisms,SNPs)位点的等位基因频率、基因型频率和单体型频率在患者组与对照组之间的差异。结果患者组和对照组之间,5个SNPs(rs4446909、rs5989681、rs56690322、rs6644635、rs17149149)等位基因和基因型频率的差异均无统计学意义(P>0.05)。3个SNPs位点rs4446909、rs5989681和rs6644635之间存在连锁不平衡(linkage disequilibrium,LD)(D’值为0.85-0.98)。但此3个SNPs构成的单体型频率在两组间的差异无统计学意义(P>0.05)。结论本研究未发现ASMT基因启动子和第1外显子区域的遗传多态性位点与儿童孤独症关联,提示这些位点可能未参与中国汉族人群孤独症的致病。
Objective To investigate whether ASMT promoter and exon 1 genetic polymorphism involved in melatonin synthesis are associated with autism in children. METHODS: The ASMT gene promoter and exon 1 region of 390 children with autism and 420 healthy controls were sequenced. The frequencies of alleles, genotypes and haplotype frequencies at five SNPs in the region were compared between the patient group and the control group. Results There were no significant differences in allele and genotype frequencies among the five SNPs (rs4446909, rs5989681, rs56690322, rs6644635, rs17149149) between the patient group and the control group (P> 0.05). There are linkage disequilibrium (LD) between the three SNPs rs4446909, rs5989681 and rs6644635 (D ’values of 0.85-0.98). However, there was no significant difference in haplotype frequency between the three SNPs (P> 0.05). Conclusion This study did not find ASMT gene promoter and exon 1 genetic polymorphism loci associated with autism in children, suggesting that these sites may not be involved in the pathogenesis of autism in Han Chinese population.