|本期目录/Table of Contents|

[1]孟庆娅,詹江华.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[J].天津医科大学学报,2014,20(02):108-110.
　MENG Qing-ya,ZhAN Jiang-hua.Study of RET proto-oncogene Exon 13 DNA Polymorphism in patients with Hirschsprung’s disease in Tianjin district[J].Journal of Tianjin Medical University,2014,20(02):108-110.
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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(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
20卷
期数:
2014年02期
页码:
108-110
栏目:
基础医学
出版日期:
2014-03-20

文章信息/Info

Title:
Study of RET proto-oncogene Exon 13 DNA Polymorphism in patients with Hirschsprung’s disease in Tianjin district
文章编号:
1006-8147(2014)02-0108-03
作者:
孟庆娅 1; 2 ;  詹江华2
（1.天津医科大学研究生院，天津 300070；2.天津市儿童医院外科，天津 300074）
Author(s):
MENG Qing-ya 1; 2 ; ZhAN Jiang-hua 2
（1 .Graduate School, Tianjin Medical University,Tianjin 300070,China; 2.Department of Surgery, Tianjin Children’s Hospital,Tianjin 300074,China）
关键词:
巨结肠; 先天性; RET; 原癌基因; 单核苷酸多态性
Keywords:
Hirschsprung’s disease;  congential;  RET;  proto-oncogene;  SNPs
分类号:
R725.7
DOI:
-
文献标志码:
A
摘要:
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（?2=18.383, P<0.001; ?2=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。
Abstract:
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 exon 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 TT26.4% in control group. The allele frequencies of T769G were G87.84% and T12.16% in HSCR group, while in control group the frequencies were G66.0%, T34.0% . Significant statistic difference was found in genotype and allele frequency.（?2=18.383, P<0.001; ?2 =19.834, P<0.001）. Conclusion: These findings suggest that the T769G polymorphism in the RET proto-oncogene Exon 13 may contribute to the occurrence of Hirschsprung’s disease.

参考文献/References:

[1] Ruiz Aja E, Vega Hernández L, Martínez Ezquerra N, et al. Genetic, population and phenotypic characteristics of patients with Hirschsprung disease[J]. Cir Pediatr, 2012,25(3):135
[2] Sribudiani Y, Metzger M, Osinga J, et al. Variants in RET associated with Hirschsprung’s disease affect binding of transcription factors and gene expression[J]. Gastroenterology, 2011 140(2):572
[3] Fernandez R M, Ruiz-Ferrer M, Lopez-Alonso M, et al. Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease[J]. J Pediatr Surg, 2008,43(11):2042
[4] Liu C P, Tang Q Q, Lou J T, et al. Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China[J]. Biochem Genet, 2010,48(5-6):496
[5] Miao X, Leon T Y, Ngan E S, et al. Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung’s disease[J]. Hum Mol Genet, 2010,19(8):1461
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[7] Phusantisampan T, Sangkhathat S, Phongdara A, et al . Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients[J]. J Hum Genet, 2012 ,57(5):286
[8] Pan Z W, Luo C F, Liu Z J, et al . RET 3’UTR polymorphisms and its protective role in Hirschsprung disease in southeastern Chinese[J]. J Pediatr Surg, 2012 ,47(9):1699 [9] Garcia-Barcelo M M, Tang C S, Ngan E S, et al. Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung’s disease[J]. Proc Natl Acad Sci U S A, 2009,106(8):2694
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备注/Memo

备注/Memo:
基金项目 天津市科委基金资助项目（033606111）
作者简介 孟庆娅（1975-），女，副主任医师，硕士在读，研究方向：小儿外科学；通信作者：詹江华，E-mail:zhanjianghuatj@163.com。
更新日期/Last Update: 2014-03-30