精氨酸加压素基因多态性在广西人群中的分布

doi:10.16098/j.issn.0529-1356.2016.04.016

解剖学报 ›› 2016, Vol. 47 ›› Issue (4): 528-533.doi: 10.16098/j.issn.0529-1356.2016.04.016

精氨酸加压素基因多态性在广西人群中的分布

向阳¹郭静² 蓝艳² 罗宏成¹黄华佗¹ 韦叶生^1*

1. 右江民族医学院附属医院检验科; 2. 右江民族医学院附属医院皮肤科，广西百色 533000

收稿日期:2015-12-30 修回日期:2016-05-03 出版日期:2016-08-06 发布日期:2016-08-06
通讯作者: 韦叶生 E-mail:wysh22@163.com
基金资助:
系统性红斑狼疮相关的一个新基因CD40/CD154信号通路分子表达调控的分子机制研究;缺血性脑卒中相关的MiR-17-92家族基因的筛选及分子机制研究;MicroRNA-21基因多态性在缺血性脑卒中的表达调控的分子机制;MicroRNA-21基因多态性在缺血性脑卒中的表达调控的分子机制

Distribution of the genetic polymorphism of arginine-vasopressin gene in Guangxi population

XIANG Yang¹GUO Jing² LAN Yan² LUO Hong-cheng¹ HUANG Hua-tuo¹ WEI Ye-sheng ^1*

1. Department of Clinical Laboratory，Affiliated Hospital of Youjiang Medical University for Nationalities，Guangxi Baise 533000，China; 2. Department of Dermatology，Affiliated Hospital of Youjiang Medical University for Nationalities，Guangxi Baise 533000，China

Received:2015-12-30 Revised:2016-05-03 Online:2016-08-06 Published:2016-08-06
Contact: WEI Ye-sheng E-mail:wysh22@163.com

摘要/Abstract

摘要：

目的探讨精氨酸加压素(AVP)基因单核苷酸多态性（SNP）位点rs2282018、rs3787482和rs1887854在303例广西人群中的分布，并对比不同族群间AVP基因型及等位基因频率分布的差别。方法采用单碱基延伸的聚合酶链反应（PCR）技术和DNA测序法，检测303例广西人AVP基因多态性，分析广西人群3个位点的基因型和等位基因的分布频率，并与人类基因组计划（HapMap）公布的欧洲人、中国北京汉族人、日本人和非洲人的基因多态性分型数据比较，分析这5个人群人类的基因型及等位基因的分布频率。结果我国广西人群AVP基因rs2282018、rs3787482及rs1887854位点各自具有3种基因型，基因型和等位基因分布与性别无关。与人类基因组计划（HapMap）公布的欧洲人、非洲人、日本人和中国北京人的单核苷酸多态性分型数据进行比较，广西人群AVP基因不同多态性位点的基因型和等位基因频率在不同地区人群的分布存在差异。结论广西地区人群中存在AVP基因多态性。广西人群AVP基因多态性的分布频率与其他不同地区种族人群比较存在差异。

关键词: 精氨酸加压素, 单核苷酸多态性, 族群, 单碱基延伸聚合酶链反应, DNA测序, 人

Abstract:

Objective To study the frequencies of allele and genotype distribution of arginine-vasopressin (AVP) gene rs2282018, rs3787482 and rs1887854 single nucleotide polymorphism (SNP) in 303 Chinese Guangxi population, and to compare the distribution differences among different ethnicses. Methods Polymerase chain reaction-single base extension (PCR-SBE) technique and DNA sequencing were taken to detect the allele and genotype frequencies of the AVP gene among 303 Chinese Guangxi population, and they were compared with other four populations (HapMap-CEU, HapMap-YRI, HapMap-JPT, HapMap-HCB) from Human Genome Project group (HapMap) data. Results We found that there were AVP gene polymorphisms in Guangxi populations. Comparing with other four populations, and the frequencies of allele and genotype distribution of AVP gene rs2282018 polymorphism had significant difference between Guangxi and HapMap-YRI populations. The frequencies of allele and genotype distribution of AVP gene rs3787482 polymorphism had significant difference between Guangxi and HapMap-YRI，HapMap-CEU populations. The frequencies of allele and genotype distribution of AVP gene rs1887854 polymorphism had significant difference between Guangxi and HapMap-YRI, HapMap-CEU and HapMap-Han populations. The distribution frequencies of AVP gene were significantly different compared with other ethnic population. Conclusion These differences may account for the different morbidity of AVP-related disease among ethnicses. It may play an important role on the studies of population genetics and anthropology.

Key words: Arginine-vasopressin, Polymorphism, Ethnic group, Polymerase chain reaction-single base extension, DNA sequencing, Human

向阳郭静蓝艳罗宏成黄华佗韦叶生. 精氨酸加压素基因多态性在广西人群中的分布[J]. 解剖学报, 2016, 47(4): 528-533.

XIANG Yang GUO Jing LAN Yan LUO Hong-cheng HUANG Hua-tuo WEI Ye-sheng. Distribution of the genetic polymorphism of arginine-vasopressin gene in Guangxi population[J]. Acta Anatomica Sinica, 2016, 47(4): 528-533.

参考文献

［1］Singh Ranger G. The physiology and emerging roles of antidiuretic hormone［J］. Int J Clin Pract, 2002, 56(10):777-782.

［2］Charmandari E, Tsigos C, Chrousos G. Endocrinology of the stress response［J］. Annu Rev Physiol, 2005, 67:259-284.

［3］Goncharova ND. Stress responsiveness of the hypothalamic-pituitary-adrenal axis: age-related features of the vasopressinergic regulation［J］. Front Endocrinol (Lausanne), 2013, 4:1-15.

［4］Van Haren RM, Thorson CM, Ogilvie MP, et al.Vasopressin for cerebral perfusion pressure management in patients with severe traumatic braininjury: preliminary results of a randomized controlled trial［J］. J Trauma Acute Care Surg, 2013, 75(6):1024-1030.

［5］Chen X, Lu G, Tang K, et al. The secretion patterns and roles of cardiac and circulating arginine vasopressin during the development of heart failure［J］. Neuropeptides, 2015, 51:63-73.

［6］Boertien WE, Meijer E, Li J, et al. Relationship of copeptin, a surrogate marker for arginine vasopressin, with change in total kidney volume and GFR decline in autosomal dominant polycystic kidney disease: results from the CRISP cohort［J］. Am J Kidney Dis, 2013, 61(3):420-429.

［7］Zhao XY, Wu CF, Yang J, et al. Effect of arginine vasopressin on the cortex edema in the Ischemic stroke of Mongolian gerbils［J］. Neuropeptides, 2015, 51:55-62.

［8］Mironova E, Chen Y, Pao AC, et al. Activation of ENaC by AVP contributes to theurinary concentrating mechanism and dilution of plasma［J］. Am J Physiol Renal Physiol, 2015, 308(3):F237-243.

［9］Manaenko A, Fathali N, Khatibi NH, et al. Post-treatment with SR49059 improves outcomes following an intracerebral hemorrhagic stroke in mice［J］. Acta Neurochir Suppl, 2011, 111:191-196.

［10］Urwyler SA, Schuetz P, F1uri F, et al. Prognostic value of copeptin one year outcome in patients with acute stroke［J］. Stroke, 2010, 4l(7): 1564-1567.

［11］Morawiec B, Kawecki D. Copeptin: a new marker in cardiology［J］. J Cardiovasc Med (Hagerstown), 2013, 14(1):19-25.

［12］Yang DB, Yu WH, Dong XQ, et al. Plasma copeptin level predicts acute traumatic coagulopathy and progressive hemorrhagic injury after traumatic brain injury［J］. Peptides, 2014, 58:26-29.

［13］Levran O, Randesi M, Li Y, et al. Drug addiction and stress-response genetic variability: association study in African Americans ［J］. Ann Hum Genet, 2014, 78(4):290-298.

［14］Malik AI, Zai CC, Berall L, et al. The role of genetic variants in genes regulating the oxytocin-vasopressin neurohumoral system in childhood-onset aggression ［J］. Psychiatr Genet, 2014, 24(5):201-210.

［15］Wei LL，Meng ChP，Li X，et al. Association study on MRCl gene polymorphism with pulmonary tuberculosis in Chinese Han and Uygur populations ［J］. Acta Anatomica Sinica, 2012, 43(5):712-716. (in Chinese)

尉理梁, 孟春萍, 李翔, 等. 中国汉族和维吾尔族MRCl基因多态性与肺结核病的相关性［J］.解剖学报, 2012, 43(5):712-716.

［16］Ding L, Wang S, Chen GM, et al. A single nucleotide polymorphism of IL-21 gene is associated with systemic lupus erythematosus in a Chinese population ［J］. Inflammation, 2012, 35(6):1781-1785.

［17］Hughes T, Kim-Howard X, Kelly JA, et al. Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21［J］. Arthritis Rheum, 2011, 63(6):1689-1697.

［18］Pei LG, Qu L, Jia F, et al. LIN28B gene polymorphisms in Ningxia Hui and Han ethnic people ［J］. Acta Anatomica Sinica, 2014, 45(1)：128-133. (in Chinese)

裴利国, 屈蕾, 贾飞, 等. 宁夏回、汉族群体LIN28B基因多态性［J］. 解剖学报, 2014, 45(1): 128-133.

［19］Meng HT, Zhang YD, Shen CM, et al. Genetic polymorphism analyses of 30 InDels in Chinese Xibe ethnic group and its population genetic differentiations with other groups ［J］. Sci Rep, 2015, 5:8260.

［20］Ke JK, Yao YF, Liu ShY, et al. Association between diversity of hypoxia at different altitude and the polymorphism of EPAS1 gene ［J］. Chinese Journal of Medical Genetics，2011, 28(5):583-588.

柯金坤, 姚宇峰, 刘舒媛, 等. 不同海拔高度低氧环境差异对EPAS1基因多态性的影响［J］. 中华医学遗传学杂志，2011, 28(5):583-588.

[1]	程全成丁慧如王子元方金玉张晓丽张卫光. 水通道蛋白9商品化抗体和自制抗体识别位点的分析和应用[J]. 解剖学报, 2024, 55(2): 237-240.
[2]	郝经伟潘婷李月朱文斌段文博刘立琨岳丽玲刘云龙高秀丽. 乳腺癌核仁磷蛋白乙酰化及其修饰位点突变体的构建和表达[J]. 解剖学报, 2024, 55(2): 196-202.
[3]	任健陈晓燕. 慢病毒载体介导的类固醇生成因子-1沉默调控子宫内膜基质细胞蜕膜化与自噬[J]. 解剖学报, 2024, 55(2): 188-195.
[4]	司丽娜罗金伟吴迪乔跃兵吕永明徐丛. 关节镜下肩袖缝线桥缝合术后疼痛的原因分析[J]. 解剖学报, 2024, 55(2): 210-214.
[5]	刘晓丽许琳吴爱雪闻彩云李如画吴安婷陈黛茜陈成春. 多发性硬化和视神经脊髓炎的脑灰质结构分析 [J]. 解剖学报, 2024, 55(1): 17-24.
[6]	白贺滕野冯蕾孟海伟汤煜春刘树伟. 基于空间域与频域特征自适应融合和类间边界区域增强的三维海马分割[J]. 解剖学报, 2024, 55(1): 73-81.
[7]	尹诗琴杨思艺王锐涵游贵宣杨迎秋张磊. 基于CT平扫下胫腓联合腓骨切迹分型及其临床意义[J]. 解剖学报, 2024, 55(1): 82-87.
[8]	杨洋史君李琨马渊张少杰侯二飞王超群陈杰王星李志军 . 切除不同范围钩突后颈椎椎间盘的有限元分析[J]. 解剖学报, 2024, 55(1): 88-97.
[9]	孙雷王星宇谢水华. 老年骨质疏松性胸腰椎压缩性骨折患者PKP术后再发骨折的风险分析及列线图预测模型的构建[J]. 解剖学报, 2024, 55(1): 98-104.
[10]	刘丽平朱梦妮徐慧 . 白细胞介素6对脂多糖诱导所致类子痫前期大鼠有核红细胞的影响 [J]. 解剖学报, 2023, 54(6): 722-729.
[11]	赵卫明李晓余国营王改平常翠芳 . 丝氨酸肽酶抑制因子Kazal型1对肝癌细胞增殖的影响及其机制 [J]. 解剖学报, 2023, 54(6): 695-702.
[12]	袁硕赵安全黄其日麦拉图吴海贺徐永胜齐岩松包呼日查 . 基于下肢全长CT分析胫骨平台后倾角和胫骨扭转角与复发性髌骨脱位的相关性 [J]. 解剖学报, 2023, 54(6): 703-709.
[13]	韩毅蔡力冯枭 . 脊柱骨质疏松性压缩性骨折经皮穿刺椎体成形后骨水泥渗漏风险分析及列线图预测模型的构建 [J]. 解剖学报, 2023, 54(6): 710-715.
[14]	王子善张兴华徐飞宇克莉郑连斌程瑜 . 云南布朗族、德昂族、佤族营养体格指数、肥胖状况及其高血压预警 [J]. 解剖学报, 2023, 54(6): 730-737.
[15]	席焕久李文慧 . 关于人种问题的讨论[J]. 解剖学报, 2023, 54(5): 605-614.

精氨酸加压素基因多态性在广西人群中的分布

Distribution of the genetic polymorphism of arginine-vasopressin gene in Guangxi population

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 15

编辑推荐

Metrics

本文评价