中国中医药信息杂志
中國中醫藥信息雜誌
중국중의약신식잡지
CHINESE JOURNAL OF INFORMATION ON TRADITIONAL CHINESE MEDICINE
2013年
11期
4-7,60
,共5页
姚实林%张祖志%吴君霞%程楠%许霞%解光艳%曹健
姚實林%張祖誌%吳君霞%程楠%許霞%解光豔%曹健
요실림%장조지%오군하%정남%허하%해광염%조건
阳虚质%遗传机制%拷贝数变异
暘虛質%遺傳機製%拷貝數變異
양허질%유전궤제%고패수변이
Yang-deficiency constitution%genetic mechanism%copy number variation
目的通过检测全基因组拷贝数变异(CNV)探究阳虚质的遗传机制。方法按照《中医体质分类与判定》标准纳入阳虚质与平和质受试者各30例,提取外周血白细胞DNA,采用SNP6.0基因分型芯片进行全基因组关联分析,采用 PennyCNV 软件分析单个样本 CNVs,逐个常染色体鉴定阳虚质特异的拷贝数变异区域(CNVR),通过人类基因组浏览器检索CNVR的相关基因及其注释。结果平和质组平均CNV数为12.63±3.39,最小值为8,最大值为20;去掉2个异常值后,阳虚质组平均CNV数为15.04±8.95,最小值为2,最大值为38。从28个阳虚质样本中共鉴定出26个CNVR,其中有19个增加型CNVR、6个删除型CNVR、1个混合型CNVR。大多数CNVR仅被少数阳虚质受试者共享,仅7个CNVR被不少于5个阳虚质受试者共享。阳虚质特异的CNVR所包含的代表基因功能涉及细胞内外信号转导、代谢调节、免疫反应等。结论阳虚质者基因组存在一些特异的 CNVs,这些 CNVs 可能通过影响细胞内外信号转导、物质代谢(能量代谢)、免疫反应等相关基因的表达而导致阳虚质“表型”。
目的通過檢測全基因組拷貝數變異(CNV)探究暘虛質的遺傳機製。方法按照《中醫體質分類與判定》標準納入暘虛質與平和質受試者各30例,提取外週血白細胞DNA,採用SNP6.0基因分型芯片進行全基因組關聯分析,採用 PennyCNV 軟件分析單箇樣本 CNVs,逐箇常染色體鑒定暘虛質特異的拷貝數變異區域(CNVR),通過人類基因組瀏覽器檢索CNVR的相關基因及其註釋。結果平和質組平均CNV數為12.63±3.39,最小值為8,最大值為20;去掉2箇異常值後,暘虛質組平均CNV數為15.04±8.95,最小值為2,最大值為38。從28箇暘虛質樣本中共鑒定齣26箇CNVR,其中有19箇增加型CNVR、6箇刪除型CNVR、1箇混閤型CNVR。大多數CNVR僅被少數暘虛質受試者共享,僅7箇CNVR被不少于5箇暘虛質受試者共享。暘虛質特異的CNVR所包含的代錶基因功能涉及細胞內外信號轉導、代謝調節、免疫反應等。結論暘虛質者基因組存在一些特異的 CNVs,這些 CNVs 可能通過影響細胞內外信號轉導、物質代謝(能量代謝)、免疫反應等相關基因的錶達而導緻暘虛質“錶型”。
목적통과검측전기인조고패수변이(CNV)탐구양허질적유전궤제。방법안조《중의체질분류여판정》표준납입양허질여평화질수시자각30례,제취외주혈백세포DNA,채용SNP6.0기인분형심편진행전기인조관련분석,채용 PennyCNV 연건분석단개양본 CNVs,축개상염색체감정양허질특이적고패수변이구역(CNVR),통과인류기인조류람기검색CNVR적상관기인급기주석。결과평화질조평균CNV수위12.63±3.39,최소치위8,최대치위20;거도2개이상치후,양허질조평균CNV수위15.04±8.95,최소치위2,최대치위38。종28개양허질양본중공감정출26개CNVR,기중유19개증가형CNVR、6개산제형CNVR、1개혼합형CNVR。대다수CNVR부피소수양허질수시자공향,부7개CNVR피불소우5개양허질수시자공향。양허질특이적CNVR소포함적대표기인공능섭급세포내외신호전도、대사조절、면역반응등。결론양허질자기인조존재일사특이적 CNVs,저사 CNVs 가능통과영향세포내외신호전도、물질대사(능량대사)、면역반응등상관기인적표체이도치양허질“표형”。
Objective To explore the genetic mechanism of Yang-deficiency constitution by detecting genomic copy number variations (CNVs). Methods Thirty cases of Yang-deficiency constitution and 30 cases of balanced constitution were included according to the standards of Classification and Determination of Constitution in Traditional Chinese Medicine. DNA was extracted from white blood cells in peripheral blood. A genome-wide association study was conducted by using Affymetrix SNP 6.0 platform. CNVs of each sample were analyzed using PennyCNV software. The Yang-deficiency constitution-specific copy number variation regions (CNVRs) of each autosome were identified. CNVR-related genes and their annotations were searched at online Human Genome Browser. Results The mean number of CNVs in balanced constitution group was 12.63±3.39, ranging from 8 to 20. After stepwise elimination of two Yang-deficiency constitution subjects, the mean number of CNVs in Yang-deficiency constitution group was 15.04±8.95, ranging from 2 to 38. A total of 26 CNVRs were identified from 28 Yang-deficiency constitution subjects, including 19 duplicated CNVRs, 6 deleted CNVRs, and 1 mixed type CNVR. Most CNVRs were shared by a few Yang-deficiency constitution subjects, and only 7 CNVRs were shared by more than 5 Yang-deficiency constitution subjects. The functions of representative genes in Yang-deficiency constitution-specific CNVRs were related with extracellular and intracellular signal transduction, metabolic regulation, and immune response, etc. Conclusion Yang-deficiency constitution subjects have some specific genomic CNVs, which might result in Yang-deficiency constitution phenotypes by influencing the expression of genes associated with extracellular and intracellular signal transduction, material metabolism (energy metabolism), and immune response, etc.