Abstract：【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.
邵新华, 王国彦, 李红卫. 湘南地区不同类型HSCR患者RET基因型与表型的相关性[J]. 医学临床研究, 2022, 39(8): 1170-1173.
SHAO Xin-hua, WANG Guo-yan, LI Hong-wei. Genotype and Phenotype Analysis of RET in Different Types of HSCR Patients in Southern Hunan. JOURNAL OF CLINICAL RESEARCH, 2022, 39(8): 1170-1173.
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