人类肿瘤组织及肿瘤细胞系中Smoothened第十外显子基因序列变异的检测

山东大学学报(医学版) ›› 2011, Vol. 49 ›› Issue (10): 122-.

人类肿瘤组织及肿瘤细胞系中Smoothened第十外显子基因序列变异的检测

杨凌1，张弛1，田延鑫1，孔北华2,黄淑红1,3，张红卫1

山东大学 1.生命科学学院发育生物学研究所，济南 250100；2.齐鲁医院妇产科，济南 250012；3.医学院神经生物学研究所，济南 250012

收稿日期:2011-02-18 出版日期:2011-10-10 发布日期:2011-10-10
通讯作者: 黄淑红(1979- )，女，博士，副教授，主要从事神经生物学的研究。 Email: shuhonghuang@sdu.edu.cn 张红卫(1944- )，女，硕士，教授，主要从事发育生物学和肿瘤细胞生物学的研究。 Email: zhw@sdu.edu.cn
作者简介:杨凌(1981- )，女，博士，主要从事肿瘤细胞生物学的研究。
基金资助:
国家自然科学基金资助项目(30900717, 30671072, 30570967)

The tenth exon smoothened Gene Sequence Detection in Human tumor tissues and tumor cell lines

YANG Ling1, ZHANG Chi1, TIAN Yan-xin1, KONG Bei-hua2, HUANG Shu-hong1,3, ZHANG Hong-wei1

1. Institute of Developmental Biology, School of Life Science, Shandong University, Jinan 250100, China;
2. Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, Jinan 250012, China;
3. Institute of Neurobiology, School of Medicine, Shandong University, Jinan 250012, China

Received:2011-02-18 Online:2011-10-10 Published:2011-10-10

摘要/Abstract

摘要：

目的研究Hedgehog (Hh) 信号通路中的重要作用分子Smoothened (SMO)第10外显子基因序列变异在人类肝、肺、胃、卵巢肿瘤及5种肿瘤细胞系中存在的状况。方法提取人类肝、肺、胃、卵巢肿瘤组织及5种肿瘤细胞系的基因组DNA，对基因组DNA中SMO第10外显子进行PCR体外扩增，然后进行DNA测序，对测序结果进行序列比对分析。结果测序结果显示，在2例胃肿瘤组织中存在SMO 第10外显子序列的变异，分别为1958C→T，1971A→G，胃肿瘤细胞系AGS中也存在SMO 第10外显子序列的变异2002T→C(rs2016607)。结论在胃肿瘤中存在SMO基因序列的变异，而其基因的改变与SMO构象和活性存在一定关系，从而为进一步研究人类胃肿瘤的发生与SMO基因序列变化之间的相关性提供依据。

关键词: Hedgehog；Smoothened；外显子；寡核苷酸序列分析

Abstract:

Objective To explore the gene sequence change of the important function molecule in the Hedgehog (Hh) signaling pathway Smoothened(SMO) exon 10 in human liver, lung, gastric and ovarian cancers and five human cancer cell lines. Methods After genomic DNA extraction, PCR and sequencing on SMO exon 10 in human liver, lung, gastric and ovarian cancer tissues and five human cancer cell lines, sequence changes were analyzed. Results There were substitutions of 1958C→T and 1971A→G in gastric cancer. One synonymous mutation 2002T→C (rs2016607) was found in the human gastric cancer cell line AGS. Conclusion There are some gene sequence changes in gastric cancers, which are related to conformation and activity of SMO. The results may provide a new clue for study of the relationship between SMO gene change and human gastric cancer.

Key words: Hedgehog; Smoothened; Exons; Oligonucleotide array sequence analysis

中图分类号:

Q319

杨凌1，张弛1，田延鑫1，孔北华2,黄淑红1,3，张红卫1. 人类肿瘤组织及肿瘤细胞系中Smoothened第十外显子基因序列变异的检测[J]. 山东大学学报(医学版), 2011, 49(10): 122-.

YANG Ling1, ZHANG Chi1, TIAN Yan-xin1, KONG Bei-hua2, HUANG Shu-hong1,3, ZHANG Hong-wei1. The tenth exon smoothened Gene Sequence Detection in Human tumor tissues and tumor cell lines[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(10): 122-.

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