CAJ | 학술논문

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Hardy-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寅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。
목적：탐토Ghrelin기인단핵감산다태성(SNP)여선천성항문직장기형(ARM)화선천성거결장(HSCR)발생적관계。방법분별채용PCR화DNA직접측서방법,검측100례ARM、100례 HSCR 환인이급100명건강인동외주혈중 Ghrelin 기인3개 SNP 위점(rs139684563、rs149447194화rs186599567)적기인형﹔병통과여정상소인진행대비,분석ARM화HSCR환인적기인변이여돌변정황。결과3개SNP위점균부합Hardy-Weinberg유전평형(P>0.05)。ARM화HSCR환인rs149447194화rs186599567위점기인형분포급등위기인빈솔여정상소인비교,차이균유통계학의의(균P<0.05),이rs139684563위점기인형분포급등위기인빈솔여정상소인적차이칙무통계학의의(P>0.05)。 DNA측서결과현시,ARM화HSCR환인rs149447194화rs186599567위점균가검출유야생형순합자결실(분별위제176화191위감기A결실)﹔ARM환인환가재rs149447194위점검출유단감기체환(제194위밀마자핵감산CCT인CTC)。결론 Ghrelin기인rs149447194화rs186599567량개위점적다태성개변가능여ARMs화HSCR적발생유관。
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 (176th and 191th base A deletion, respectively) were found in rs149447194 and rs186599567of ARMs and HSCR children, and single base substitution was detected in rs149447194 of ARMs children (194th codon nucleotide CCT→CTC). Conclusions The rs149447194 and the rs186599567 polymorphism changes may be associated with the pathogenesis of ARMs and HSCR.