天津地区肠无神经节细胞症RET基因13号外显子基因多态性研究

Study of RET proto-oncogene exon 13 DNA Polymorphism in patients with Hirschsprung's disease in Tianjin district

目的:探讨RET基因13号外显子的基因多态性改变与肠无神经节细胞症(HSCR)的发生关系。方法:提取74例HSCR患者和53例与胃肠道疾病无关的对照组病人的全血DNA,聚合酶链反应(PCR)扩增RET基因13号外显子,纯化,应用直接测序方法分析13号外显子的基因表达情况。结果:在HSCR组与对照组中,RET基因13号外显子存在T769G基因多态性改变,其基因型频率在HSCR组中为GG78.27%,GT18.93%,TT2.8%;在对照组中为GG58.5%,GT15.1%,TT26.4%。等位基因频率在HSCR组中为G:87.84%,T:12.16%;在对照组中为G:66.0%,T:34.0%。两组的基因型和等位基因频率差异均有统计学意义(χ2=18.383,P<0.001;χ2=19.834,P<0.001)。结论:RET基因13号外显子的T769G基因多态性改变与先天性巨结肠的发生可能相关。

Objective： To investigate the relationship between RET proto-oncogene exon 13 DNA Polymorphism and Hirschsprung＇s disease. Methods： Genomic DNA was extracted from whole blood samples from 74 patients with Hirschsprung＇s disease and 53 control children. Polymerase chain reaction （PCR） amplified the 13 cxou of the RET proto-oncogene. Direct DNA sequencing was carried out after purification, and gene expression was detected. Results： In HSCR group and control group, T769G polymorphism was found. The genotype frequencies of T769G were GG78.27%, GT18.93% and TT2.8% in HSCR group, and GG58.5%, GT15.1% and TF26.4% in control group. The allele frequencies of T769G were G87.84% and T 12.16% in HSCR group, while in control group the frequencies were G66.0%, T34.0%. Significant statistic difference was found in genotype and allele frequency （X2= 18.383,P〈0.001; X2= 19.834, P〈0.001 ）. Conclusion： These findings suggest that the T769G polymorpbism in the RET proto-oncogene Exon 13 may contribute to the occurrence of Hirschsprung＇s disease.