中文摘要：

目的探讨Ghrelin基因单核苷酸多态性（SNP）与先天性肛门直肠畸形（ARM）和先天性巨结肠（HSCR）发生的关系。方法分别采用PCR和DNA直接测序方法，检测100例ARM、100例HSCR患儿以及100名健康儿童外周血中Ghrelin基因3个SNP位点（rs139684563、rs149447194和rs186599567）的基因型；并通过与正常小儿进行对比，分析ARM和HSCR患儿的基因变异与突变情况。结果3个SNP位点均符合HaZy—Weinberg遗传平衡（P〉0．05）。ARM和HSCR患儿rs149447194和rs186599567位点基因型分布及等位基因频率与正常小儿比较，差异均有统计学意义（均P〈0．05），而rs139684563位点基因型分布及等位基因频率与正常小儿的差异则无统计学意义（P〉0．05）。DNA测序结果显示，ARM和HSCR患儿rs149447194和rs186599567位点均可检出有野生型纯合子缺失（分别为第176和191位碱基A缺失）；ARM患儿还可在rs149447194位点检出有单碱基替换（第194位密码子核苷酸CCT→CTC）。结论Ghrelin基因rs149447194和rs186599567两个位点的多态性改变可能与ARMs和HSCR的发生有关。

英文摘要：

Objective To explore the relationship of Ghrelin gene polymorphism with the occurrence of human anorectal malformations （ARMs） and Hirschsprung disease （HSCR）. Methods PCR and DNA sequencing were used to detect the single nucleotide polymorphism （SNPs） of 3 loci （rs139684563, rs149447194, rs186599567） genotype of Ghrelin gene in 100 children with ARMs, 100 children with HSCR, and 100 healthy children （normal group）. Genovariation and gene mutation were analyzed with case-control method. Results Three loci SNPs were in accordance with Hardy-Weinberg genetic equilibrium. No significant differences were found in rs139684563 allele and genotype frequencies between the cases and the normal groups （P〉0.05）. The allele and genotype frequencies of rs149447194 and rs186599567 were significantly different between cases and normal group （P〈0.05）. DNA sequencing results showed that wild-type homozygous deletion （176^th and 19^thbase A deletion, respectively） were found in rs149447194 and rs186599567of ARMs and HSCR children, and single base substitution was detected in rs149447194 of ARMs children （194^th codon nucleotide CCT→CTC）. Conclusions The rs149447194 and the rs186599567 polymorphism changes may be associated with the pathogenesis of ARMs and HSCR.