人胸膜间皮瘤ALDH3B1基因序列分析

楚雄师范学院学报 ›› 2020, Vol. 35 ›› Issue (6): 62-75.

人胸膜间皮瘤ALDH3B1基因序列分析

邱璐¹, 张立¹, 杨海艳¹, 杨娜², 江岸¹, 余琼³, 温莺璇³, 赵一^3,*, 杨晟杰^4,*

1.楚雄师范学院化学与生命科学学院,云南楚雄 675000;
2.大理大学基础医学院云南大理 671000;
3.楚雄彝族自治州人民医院病理科,云南楚雄 675000;
4.楚雄彝族自治州人民医院胸外科,云南楚雄 675000

收稿日期:2020-03-10 出版日期:2020-11-20 发布日期:2021-03-29

Sequence Analysis of ALDH3B1 Gene in Human Pleural Mesothelioma

Lu Qiu¹, Li Zhang¹, Haiyan Yang¹, Na Yang², An Jiang¹, Qiong Yu³, YingxuanWen³, Yi Zhao^3,*, Shengjie Yang^4,*

1. College of Chemistry and Life Sciences of Chuxiong Normal University,Chuxiong 675000, China;
2. Medical College of Dali University, Dali 671000 China;
3. Pathology Department of People's Hospital of Chuxiong Yi Autonomous Prefecture, Chuxiong 675000, China;
4. Thoracic Surgery Department of People's Hospital of Chuxiong Yi Autonomous Prefecture,Chuxiong 675000, China

Received:2020-03-10 Online:2020-11-20 Published:2021-03-29
Contact: * Yi Zhao（1980–）,Male,bachelor,associate chief physician,research direction is pathology. Email:272328066 @qq.com; Shengjie Yang（1982–）,Male,bachelor,associate chief physician,research direction is pathology.E-mail: 287354770@qq.com
About author:Lu Qiu（1964－）,Female,Master,professor,research interests are molecular biology and molecular spectroscopy.E-mail: qiulu@cxtc.edu.cn;#Co-first author：Li Zhang,Male,bachelor,majoring in biology. E-mail: zhangli@cxtc.edu.cn

摘要/Abstract

摘要： 通过人胸膜间皮瘤DNA从头测序,发现ALDH3B1基因突变与人胸膜间皮瘤发生发展有一定的关联。通过PCR扩增,得到52例人胸膜间皮瘤、11例人非胸膜间皮瘤样本的ALDH3B1基因片段,利用一代测序技术对人胸膜间皮瘤ALDH3B1基因突变进行验证。ALDH3B1基因片段系列比对结果显示：①与非胸膜间皮瘤患者相比,人胸膜间皮瘤患者ALDH3B1基因突变位点较多,有9个基因替换位点,一个基因颠换位点,3个基因片段严重缺失。②突变率较高的位点有：67789454 bp位点的碱基发生G-A替换,突变率为12.96%;67789380 bp位点的碱基发生G-A替换,突变率为9.43%;67789589 bp 位点的碱基发生G-A替换,突变率为7.69%;67789407 bp位点的碱基发生C-T替换,突变率为7.55%。③突变位点较多的病例是XL1、XL36、XL47和XLZCH,它们各有四个突变位点;Z17例非胸膜间皮瘤患者有三个突变位点,且有基因片段严重缺失。④XL44ZL与XL44是同一病例的癌旁组织与癌组织,它们在67789454 bp 位点的碱基发生发了G-A替换,其他突变未发生。⑤考查位点67789292 bp没有发生基因突变。结果表明,人胸膜间皮瘤的发生发展与ALDH3B1基因突变有关,但ALDH3B1基因是否能充当人胸膜间皮瘤的生物标志物仍需进一步扩大样本验证。

关键词: 人胸膜间皮瘤, ALDH₃H₁, 基因突变

Abstract: The result was discovered that gene mutation of ALDH3B1 gene was associated with the development of human pleural mesothelioma through the DE novo sequencing of human pleural mesothelioma DNA. By PCR amplification, the ALDH3B1 gene fragment of 52 human pleural mesothelioma samples and 11 non-pleural mesothelioma samples were obtained, and the mutation of ALDH3B1 gene of human pleural mesothelioma was verified by next-generation sequencing technology. The results of a series of comparison of ALDH3B1 gene fragments showed that: ① Compared patients of non-pleural mesothelioma, patients of human pleural mesothelioma had more ALDH3B1 gene mutation sites, with 9 gene replacement sites, 1 gene inversion point and 3 gene fragments severely missing. ②Among the sites with a higher mutation rate, G-A replacement occurred at 67789454 bp, with a mutation rate of 12.96%. The G-A replacement occurred at the 67789380bp site with a mutation rate of 9.43%. The G-A replacement occurred at 67789589 bp, with a mutation rate of 7.69%. C-T replacement occurred at 67789407 bp, with a mutation rate of 7.55%. ③ The patients with more mutation sites were XL1, XL36, XL47 and XLZCH, each of which had four mutation sites. The patient Z17, with non-pleural mesothelioma, had three mutation sites and severe gene fragment deletion. ④ Without other mutation occurring, XL44ZL and XL44 were adjacent tissues and cancer tissues of the same case, and G-A replacement was detected at 67789454 bp. ⑤ No gene mutation occurred at 67789292 bp . The results showed that the occurrence and development of human pleural mesothelioma were related to the mutation of ALDH3B1 gene. Whether ALDH3B1 gene can be served a biomarker for human pleural mesothelioma still needs to be further verified by expanding the sample size.

Key words: Human pleural mesothelioma, Aldehyde dehydrogenase 3B1（ALDH3B1）, Genetic mutations

中图分类号:

R739.5

邱璐, 张立, 杨海艳, 杨娜, 江岸, 余琼, 温莺璇, 赵一, 杨晟杰. 人胸膜间皮瘤ALDH3B1基因序列分析[J]. 楚雄师范学院学报, 2020, 35(6): 62-75.

Lu Qiu, Li Zhang, Haiyan Yang, Na Yang, An Jiang, Qiong Yu, YingxuanWen, Yi Zhao, Shengjie Yang. Sequence Analysis of ALDH3B1 Gene in Human Pleural Mesothelioma[J]. Journal of Chuxiong Normal University, 2020, 35(6): 62-75.

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