遗传
遺傳
유전
HEREDITAS(BEIJING)
2014年
10期
995-1005
,共11页
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
宿英%龍毅%阮國榮%吳麗花%張誌燕%肖石軍%鄧瑋蕓%呂顯山%鬍豆%吳國竈%瀋虎群%廖信軍%丁能水%黃路生
숙영%룡의%원국영%오려화%장지연%초석군%산위예%려현산%호두%오국조%침호군%료신군%정능수%황로생
猪%脐疝%位置功能候选基因%TDT分析%CDC73
豬%臍疝%位置功能候選基因%TDT分析%CDC73
저%제산%위치공능후선기인%TDT분석%CDC73
pig%umbilical hernia%positional and functional candidate gene%transmission disequilibrium test%CDC73
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 dise-quilibrium 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。
在本實驗室前期利用白色杜洛剋×二花臉F2資源傢繫開展臍疝易感位點全基因組掃描定位的基礎上，文章在7號染色體上的SWR1928和10號染色體上的SW830易感標記區域，結閤臍疝髮病機製在多群體中進行臍疝位置功能候選基因的篩選和易感位點的精細定位。在兩箇顯著關聯的微衛星位點區域搜尋到12箇位置功能候選基因，採用比較測序法，選取12箇候選基因內共計40箇SNP位點在白色杜洛剋×二花臉資源傢繫F2/F3臍疝群體中進行基因分型，利用Plink v1.07軟件對基因型數據進行質量控製和傳遞不平衡(Transmission dise-quilibrium test，TDT)分析。結果錶明，IL16(Interleukin 16)基因中的g.708C>T位點和CDC73(Cell division cycle 73)基因中的 g.10664G>A 位點與臍疝的關聯性達到顯著水平(P<0.05)。對這兩箇位點在西方商業豬種臍疝患病傢繫中進行基因分型和TDT驗證分析，髮現CDC73基因中的g.10664G>A位點仍與豬臍疝呈顯著關聯(P<0.05)。同時對 CDC73基因中與資源傢繫臍疝呈弱相關的兩箇 SNP位點 g.10546A>G和 g.10811A>G在西方商業豬種中進行 TDT 驗證分析，髮現這兩箇 SNP 位點與商業豬種臍疝髮生的關聯性達到極顯著水平(P<0.01)。根據文章的分析結果，結閤臍疝髮生的生理機製及CDC73基因的生物學功能，推測CDC73基因可能為豬臍疝髮生的易感基因。
재본실험실전기이용백색두락극×이화검F2자원가계개전제산역감위점전기인조소묘정위적기출상，문장재7호염색체상적SWR1928화10호염색체상적SW830역감표기구역，결합제산발병궤제재다군체중진행제산위치공능후선기인적사선화역감위점적정세정위。재량개현저관련적미위성위점구역수심도12개위치공능후선기인，채용비교측서법，선취12개후선기인내공계40개SNP위점재백색두락극×이화검자원가계F2/F3제산군체중진행기인분형，이용Plink v1.07연건대기인형수거진행질량공제화전체불평형(Transmission dise-quilibrium test，TDT)분석。결과표명，IL16(Interleukin 16)기인중적g.708C>T위점화CDC73(Cell division cycle 73)기인중적 g.10664G>A 위점여제산적관련성체도현저수평(P<0.05)。대저량개위점재서방상업저충제산환병가계중진행기인분형화TDT험증분석，발현CDC73기인중적g.10664G>A위점잉여저제산정현저관련(P<0.05)。동시대 CDC73기인중여자원가계제산정약상관적량개 SNP위점 g.10546A>G화 g.10811A>G재서방상업저충중진행 TDT 험증분석，발현저량개 SNP 위점여상업저충제산발생적관련성체도겁현저수평(P<0.01)。근거문장적분석결과，결합제산발생적생리궤제급CDC73기인적생물학공능，추측CDC73기인가능위저제산발생적역감기인。
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 sus-ceptibility 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 thatg.708G>A inIL16 (interleukin 16) gene andg.10664G>A inCDC73(cell division cycle 73) gene were significantly associated with pig UH. These two prominent SNPs and another two weakly associated SNPs g.10546A>G andg.10811A>GinCDC73 were also undergone the replication TDT test in the outbred commercial popula-tions. All SNPs in theCDC73 gene were confirmed to be significantly associated with pig UH (P<0.05), including g. 10546A>G andg.10811A>Gwith 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.
