生物学杂志

生物学杂志 ›› 2020, Vol. 37 ›› Issue (3): 12-.doi: 10.3969/j.issn.2095-1736.2020.03.012

• 研究报告 • 上一篇    下一篇

基于全基因组水平分析融合基因的特性

  

  1. 石河子大学 生命科学学院， 石河子 832000
  • 出版日期:2020-06-18 发布日期:2020-06-10
  • 通讯作者: 马磊，博士，副教授，研究方向为生物信息学与分子遗传学，E-mail：malei1979@hotmail.com; 张婷婷，博士，讲师，研究方向为分子遗传学，E-mail: zting@shzu.edu.cn
  • 作者简介:李迎侠，硕士研究生，专业方向为遗传学，E-mail：liyingxia1991@hotmail.com
  • 基金资助:
    国家自然科学基金（31560310，31272416）;人社部留学人员科技活动择优资助

Analysis of gene fusion characteristics based on genome-wide level

  1. College of Life Science, Shihezi University, Shihezi 832000, China
  • Online:2020-06-18 Published:2020-06-10

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摘要： 基因融合是引起肿瘤发生的重要原因之一，几乎一半以上的恶性肿瘤都有融合基因的参与。探索融合基因的特性，已经成为生命科学和医学研究的热点。使用ChiTaRS-3.1数据库中收集整理的11 632条由基因融合导致的癌症断点数据，从基因融合的方式、融合基因在整个染色体上的分布、参与融合的基因特点，以及以白血病为例探讨融合基因的特性等方面进行分析。结果显示基因融合以染色体易位为主，11、17和19号染色体上的融合频率较多，染色体间的相互易位频率不均等；基因融合事件共涉及8733个基因，仅9%的基因参与多次融合；13%的基因融合事件与白血病有关。基因融合在基因组的分布具有非随机性和集中倾向性。为后续揭示染色体基因融合的机理，及其导致的疾病治疗与预防提供了新的方向与思路。

关键词: 染色体重组, 融合基因, 癌症, 白血病

Abstract: Gene fusion is one of the important causes of tumorigenesis, and almost half of all malignant tumors have the involvement of fusion genes. Exploring the characteristics of fusion genes has become a hot topic in life science and medical research. In this study, 11 632 gene fusion data were collected from ChiTaRS-3.1 database, from gene fusion, fusion gene distribution across the chromosome, and genes involved in fusion and the characteristics, as well as the analysis of the characteristics of the fusion gene using leukemia as an example. The results showed that gene fusion was dominated by chromosomal translocations, with more frequent mutations on chromosomes 11, 17 and 19 involving a total of 8733 genes, of which only 9% of genes participate in multiple fusion events, and 13% of gene fusion events were associated with leukemia. The distribution of gene fusion in the genome was non-random and concentrated. This study would provide new clues for the subsequent discovery of the mechanism of chromosomal gene fusion and its treatment and prevention of diseases.

Key words: chromosome recombination, fusion gene, cancer, leukemia

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