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目的研究80例山西汉族先天性巨结肠症(Hirschsprung disease,HSCR)患儿RET基因7、12、13、15号外显子的单核苷酸多态性(single nucleotides polymorphisms,SNPs)与HSCR发病的关系。方法通过测序及序列比对的方法,对山西省80例汉族散发性HSCR患者和80例汉族健康儿童进行RET基因外显子序列分析,比较基因多态性位点等位基因频率在两组的差异。结果 RET基因7号外显子A432A(GCA→GCG)位点存在多态性,病例组和对照组中该位点的等位基因分布频率存在显著性差异(χ2=5.668,P<0.05),风险等位基因为G等位基因,OR=3.05,95%可信区间为1.218～7.639;RET基因13号外显子L769L(CCT→CTA)位点存在多态性,病例组和对照组中该位点的等位基因分布频率存在显著差异(χ2=37.458,P<0.01),风险等位基因为G等位基因,OR=4.632,95%可信区间为2.832～7.577。7号外显子D489N(GAC→AAC),15号外显子S904S(TCC→TCG)存在多态位点,病例组与对照组中P>0.05,该位点与疾病无显著相关性。其余已报道多态位点本次试验未发现。结论 RET密码子A432A、L769L的基因多态性与80例山西汉族HSCR患儿的发生密切相关。
Objective To investigate the association between single nucleotide polymorphisms (SNPs) of exons 7, 12, 13 and 15 of RET children with congenital Hirschsprung disease (HSCR) relationship. Methods The exon sequence analysis of RET gene was performed in 80 Han Han sporadic HSCR patients and 80 Han healthy children in Shanxi Province by sequencing and sequence alignment. The allele frequencies of the polymorphic loci were compared between the two groups difference. Results There was polymorphism in the GCA → GCG locus of exon 7 of RET gene. There was a significant difference in the frequency of allele distribution between the cases and controls (χ2 = 5.668, P <0.05). The risk OR = 3.05, with a 95% confidence interval of 1.218-7.639. There was polymorphism in the L769L (CCT → CTA) site of exon 13 of RET gene. In the case group and the control group, The frequency of allele distribution was significantly different (χ2 = 37.458, P <0.01) and the risk allele was G allele (OR = 4.632, 95% confidence interval was 2.832-7.577.7 exon D489N GAC → AAC) and exon 15 S904S (TCC → TCG). There was no significant correlation between the locus and disease in the cases and controls. The rest of the reported polymorphic sites were not found in this trial. Conclusion The polymorphisms of RET codons A432A and L769L are closely related to the occurrence of HSCR in 80 Han Chinese Han patients.