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利用犬170 K高密度SNP芯片檢測16個中國地方犬種全基因組拷貝數(shù)變異

發(fā)布時間:2018-05-07 08:51

  本文選題: + SNP芯片。 參考:《畜牧獸醫(yī)學(xué)報》2017年06期


【摘要】:旨在解析中國地方犬全基因組拷貝數(shù)變異(CNV)分布情況,為分析CNV對犬表型變異的影響提供前期基礎(chǔ)。本研究采集了16個來自中國不同地方犬品種和9頭羅威納犬共計185頭犬的血液樣品,使用血液DNA提取試劑盒提取DNA,利用犬170KSNP芯片和PennCNV軟件對中國地方犬進(jìn)行全基因組范圍內(nèi)的CNV分析。參照Illumina芯片標(biāo)準(zhǔn)操作流程進(jìn)行芯片掃描和基因分型。將質(zhì)控后的SNP參考PennCNV軟件使用說明書,設(shè)定分析參數(shù)進(jìn)行CNV檢測分析。從分析結(jié)果中隨機挑選8個CNV區(qū)間(CNVRs)使用實時定量PCR進(jìn)行驗證。利用BioMart以及DAVID軟件進(jìn)行基因和功能注釋分析。結(jié)果表明,在185個個體中共發(fā)現(xiàn)了477個CNV,這些CNV隨機分布在38條常染色體上,合并后可以得到220個CNVR,總長度約占犬整個基因組序列的1.25%,平均長度為142.24kb。在220個CNVR中,115個為缺失,74個為重復(fù),31個為缺失/重復(fù)CNVR。此外,筆者發(fā)現(xiàn)53個CNVR為潛在的中國地方犬品種特異性CNVR。在基因和功能注釋中,本研究共發(fā)現(xiàn)162個基因位于所檢測到的CNVR內(nèi),這些基因主要富集的功能類別是嗅覺受體活動,嗅覺的感知,對化學(xué)刺激物的感知,感官知覺和神經(jīng)系統(tǒng)過程。這些結(jié)果解析了中國地方犬基因組結(jié)構(gòu)變異分布情況,將有助于進(jìn)一步研究CNV與犬表型變異的關(guān)聯(lián)性。
[Abstract]:The aim of this study was to analyze the distribution of complete copy number variation (CNVs) in Chinese local dogs, and to provide a preliminary basis for the analysis of the effect of CNV on the phenotypic variation of dogs. In this study, blood samples were collected from a total of 185 dogs from 16 different breeds of dogs from different parts of China and 9 Rovina dogs. The blood DNA extraction kit was used to extract the DNA, and the genomic CNV was analyzed by using the canine 170KSNP chip and PennCNV software. According to the standard operating procedure of Illumina chip, the chip scanning and genotyping were carried out. SNP after quality control refer to the PennCNV software instructions, set the analysis parameters for CNV detection and analysis. Eight CNV intervals were randomly selected from the analysis results to be verified by real time quantitative PCR. BioMart and DAVID software were used to analyze gene and function annotation. The results showed that 477 CNVs were found in 185 individuals. These CNV were randomly distributed on 38 autosomes, and 220 CNVRs were obtained after merging. The total length of CNVs was about 1.25 kb of the total genome sequence in dogs, with an average length of 142.24 kb. Of 220 CNVR, 115 were deletions, 74 were duplicates, and 31 were deletions / repeats. In addition, 53 CNVR were found to be potential Chinese local breeds specific CNVRs. In gene and functional annotations, 162 genes were found to be located in the detected CNVR. The major functional types of these genes are olfactory receptor activity, olfactory perception, and perception of chemical stimuli. Sensory perception and nervous system processes. These results are helpful to further study the relationship between CNV and phenotypic variation in dogs.
【作者單位】: 江西農(nóng)業(yè)大學(xué)省部共建豬遺傳改良與養(yǎng)殖技術(shù)國家重點實驗室;公安部南昌警犬基地;
【基金】:國家高技術(shù)研究發(fā)展計劃(863計劃)(2013AA102502)
【分類號】:S829.2

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1 ;致本刊研究報告作者[J];養(yǎng)豬;2014年03期



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