湘南地区不同类型HSCR患者RET基因型与表型的相关性  

Genotype and Phenotype Analysis of RET in Different Types of HSCR Patients in Southern Hunan

作　　者：邵新华 王国彦[1] 李红卫[1] SHAO Xin-hua;WANG Guo-yan;LI Hong-wei(Department of Pediatric General Surgery,First People's Hospital of Chenzhou,Chenzhou Hunan 423000)

机构地区：[1]郴州市第一人民医院小儿普外科,湖南郴州423000

出　　处：《医学临床研究》2022年第8期1170-1173,共4页Journal of Clinical Research

基　　金：湘南学院院级课题(2020XJ8Z)。

摘　　要：【目的】探讨湘南地区不同类型先天性巨结肠症(HSCR)患者RET基因型与表型的相关性。【方法】选择2015年1月至2021年1月本院收治的188例汉族HSCR患儿(观察组),同时选取本院同期健康体检的206例健康儿童为对照组。利用相关参考文献和生物信息学数据库查找目的基因的多态性位点,选取RET基因5个多态性位点(rs1799939、rs1800858、rs1800862、rs2435357和rs2506030),应用聚合酶链式反应(PCR)扩增目的基因,采用Taqman基因分型检测目的基因分型,分析其与HSCR患者遗传易感性的相关性。【结果】不同类型HSCR患者rs1799939、rs1800858、rs1800862、rs2435357和rs2506030的等位基因频率比较,差异无统计学意义(P>0.05)。rs1799939、rs1800858、rs2435357和rs2506030会显著增加HSCR的发病风险,OR值分别为3.777、1.328、7.614、3.184;携带上述4个位点风险等位基因的个体与未携带风险等位基因的个体对比,其患HSCR的风险明显上升,OR值分别为1.718、2.059、2.678、1.636。【结论】RET基因SNP位点rs1799939、rs1800858、rs2435357和rs2506030与湘南地区HSCR患者明显相关,对预警湘南地区HSCR的发生具有重要作用。【Objective】To explore the relationship of RET genotypes with different phenotypes of(Hirschsprung's disease,HSCR)patients in Southern Hunan.【Methods】A total of 188 patients with HSCR in our hospital from January 2015 to January 2021 were collected as the HSCR group,and 206 healthy children matched with gender and age in our hospital in the same period were selected as the control group.Using literature references and bioinformatics database for searching the polymorphic sites of the target gene,five polymorphic sites of RET gene(rs1799939,rs1800858,rs1800862,rs2435357 and rs2506030)were selected in this study.The target gene was amplified by PCR,and the above five sites were genotyped by TaqMan genotyping technology.The correlation of RET genotypes with the genetic susceptibility of HSCR patients was analyzed.【Results】There was no significant difference in allele frequencies of rs1799939,rs1800858,rs1800862,rs2435357 and rs2506030 in patients with different types of HSCR(P>0.05).The rs1799939,rs1800858,rs2435357 and rs2506030 significantly increased the risk of HSCR,with OR values of 3.777,1.328,7.614 and 3.184,respectively.Compared to individuals without the above risk alleles,individuals with risk alleles at the above four loci had a significantly increased risk of HSCR.The OR values of rs1799939,rs1800858,rs2435357 and rs2506030 were 1.718,2.059,2.678 and 1.636,respectively.【Conclusion】The SNP loci rs1799939,rs1800858,rs2435357 and rs2506030 of RET gene are significantly associated with patients with HSCR in southern Hunan,which can an important role in early warning of HSCR in Southern Hunan.

关 键 词：HIRSCHSPRUNG病 基因型 儿童 

分 类 号：R726.2[医药卫生—儿科]