利用传递不平衡分析在多群体中鉴别猪脐疝易感基因

doi:10.3724/SP.J.1005.2014.0995

遗传 ›› 2014, Vol. 36 ›› Issue (10): 995-1005.doi: 10.3724/SP.J.1005.2014.0995

利用传递不平衡分析在多群体中鉴别猪脐疝易感基因

宿英¹,龙毅¹,阮国荣^1,2,吴丽花¹,张志燕¹,肖石军¹,邓玮芸¹,吕显山¹,胡豆¹,吴国灶¹,沈虎群¹,廖信军^1,3,丁能水¹,黄路生¹

1. 江西农业大学,动物生物技术国家重点实验室培育基地,南昌 330045;
2. 福建农业职业技术学院,福州 350119;
3. 井冈山大学生命科学学院,吉安 343009

收稿日期:2014-03-16 出版日期:2014-10-20 发布日期:2014-10-20
通讯作者: 丁能水,博士,研究员,博士生导师,研究方向：动物育种新技术研究。E-mail: dingyd2005@hotmail.com E-mail:xy19880910@yeah.net
作者简介:宿英,硕士,专业方向：动物遗传育种与繁殖。E-mail：xy19880910@yeah.net;龙毅,博士,研究方向：动物遗传育种与繁殖。E-mail：longyilongyily@163.com
基金资助:
国家自然科学基金项目(编号：31272422),教育部新世纪优秀人才计划项目(编号：教技函[2012]80),国家科技支撑项目(编号：2011BAD28B01)和江西省现代农业产业技术体系建设专项资金(编号：JXARS-03)资助

Identification of susceptibility gene for pig umbilical hernia in different populations using transmission disequilibrium test

Ying Su¹, Yi Long¹, Guorong Ruan^{1, 2}, Lihua Wu¹, Zhiyan Zhang¹, Shijun Xiao¹, Weiyun Deng¹, Xianshan Lv¹, Dou Hu¹, Guozao Wu¹, Huqun Shen¹, Xinjun Liao^{1, 3}, Nengshui Ding¹, Lusheng Huang¹

1. Candidate of National Key Laboratory for Animal Biotechnology, Jiangxi Agricultural University, Nanchang, 330045, China;
2. Fujian Vocational College of Agriculture, Fuzhou 350119, China;
3. College of Life Science of Jinggangshan University, Ji’an 343009, China

Received:2014-03-16 Online:2014-10-20 Published:2014-10-20

摘要/Abstract

摘要： 在本实验室前期利用白色杜洛克×二花脸F₂资源家系开展脐疝易感位点全基因组扫描定位的基础上,文章在7号染色体上的SWR1928和10号染色体上的SW830易感标记区域,结合脐疝发病机制在多群体中进行脐疝位置功能候选基因的筛选和易感位点的精细定位。在两个显著关联的微卫星位点区域搜寻到12个位置功能候选基因,采用比较测序法,选取12个候选基因内共计40个SNP位点在白色杜洛克×二花脸资源家系F₂/F₃脐疝群体中进行基因分型,利用Plink v1.07软件对基因型数据进行质量控制和传递不平衡(Transmission disequilibrium test,TDT)分析。结果表明,IL16(Interleukin 16)基因中的g.708C>T位点和CDC73(Cell division cycle 73)基因中的g.10664G>A位点与脐疝的关联性达到显著水平(P<0.05)。对这两个位点在西方商业猪种脐疝患病家系中进行基因分型和TDT验证分析,发现CDC73基因中的g.10664G>A位点仍与猪脐疝呈显著关联(P<0.05)。同时对CDC73基因中与资源家系脐疝呈弱相关的两个SNP位点g.10546A>G和g.10811A>G在西方商业猪种中进行TDT验证分析,发现这两个SNP位点与商业猪种脐疝发生的关联性达到极显著水平(P<0.01)。根据文章的分析结果,结合脐疝发生的生理机制及CDC73基因的生物学功能,推测CDC73基因可能为猪脐疝发生的易感基因。

关键词: 猪, 脐疝, 位置功能候选基因, TDT分析

Abstract: A genome-wide scan for pig umbilical hernia (UH) was performed in a White Duroc × Erhualian resource population reported by our previously study, which detected two susceptibility microsatellite markers (SWR1928 on SSC7 and SW830 on SSC10) significantly affecting pig UH. Herein, fine mapping studies and identification of susceptibility genes for UH were performed in two different populations. A total of 40 SNPs in 12 positional candidate genes located on the two significant segments were genotyped in the F₂/F₃ resource population. Quality control of the genotype data and transmission disequilibrium test (TDT) were conducted using Plink v1.07 software. The results showed that g.708G>A in IL16 (interleukin 16) gene and g.10664G>A in CDC73 (cell division cycle 73) gene were significantly associated with pig UH. These two prominent SNPs and another two weakly associated SNPs g.10546A>G and g.10811A>G in CDC73 were also undergone the replication TDT test in the outbred commercial populations. All SNPs in the CDC73 gene were confirmed to be significantly associated with pig UH (P<0.05), including g. 10546A>G and g.10811A>G with extreme significant level (P<0.01). Based on these results, CDC73 should be a susceptibility gene for pig UH according to its biological functions and the molecular pathogenesis of UH.

Key words: pig, umbilical hernia, positional and functional candidate gene, transmission disequilibrium test

宿英,龙毅,阮国荣,吴丽花,张志燕,肖石军,邓玮芸,吕显山,胡豆,吴国灶,沈虎群,廖信军,丁能水,黄路生. 利用传递不平衡分析在多群体中鉴别猪脐疝易感基因[J]. 遗传, 2014, 36(10): 995-1005.

Ying Su, Yi Long, Guorong Ruan, Lihua Wu, Zhiyan Zhang, Shijun Xiao, Weiyun Deng, Xianshan Lv, Dou Hu, Guozao Wu, Huqun Shen, Xinjun Liao, Nengshui Ding, Lusheng Huang. Identification of susceptibility gene for pig umbilical hernia in different populations using transmission disequilibrium test[J]. HEREDITAS(Beijing), 2014, 36(10): 995-1005.

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利用传递不平衡分析在多群体中鉴别猪脐疝易感基因

Identification of susceptibility gene for pig umbilical hernia in different populations using transmission disequilibrium test

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