CAJ | 학술논문

目的利用全基因重测序技术初步探讨与瘢痕疙瘩相关的基因组拷贝数变异(CNV).方法收集1个瘢痕疙瘩家系,共4代27人,选取该家系中5例(4例瘢痕疙瘩患者,1名健康人)利用Illumina Hiseq 2000进行全基因组重测序,对所获信息进行数据库比对和变异注释.结果通过数据库比对及变异注释分析后获得了与瘢痕疙瘩相关的15个CNV,通过DAVID对筛选出来的15个基因进行基因注释和信号通路分析.共发现5个CNV[生长因子受体结合蛋白7(GRB7)、丝裂原激活蛋白激酶激酶激酶激酶4(MAP4 K4)、丝裂原激活蛋白激酶激酶激酶15(MAP3K15)、Kruppel样转录因子7(KLF7)和NKx2-2]与瘢痕疙瘩密切相关.这些CNV所涉及的基因与细胞表皮形成与分化、细胞外分泌及细胞黏附有关.结论共发现5个与瘢痕疙瘩相关的CNV,其中MAP3K15和MAP4K4与瘢痕疙瘩关系可能最为密切.
목적 이용전기인중측서기술초보탐토여반흔흘탑상관적기인조고패수변이(CNV).방법 수집1개반흔흘탑가계,공4대27인,선취해가계중5례(4례반흔흘탑환자,1명건강인)이용Illumina Hiseq 2000진행전기인조중측서,대소획신식진행수거고비대화변이주석.결과 통과수거고비대급변이주석분석후획득료여반흔흘탑상관적15개CNV,통과DAVID대사선출래적15개기인진행기인주석화신호통로분석.공발현5개CNV[생장인자수체결합단백7(GRB7)、사렬원격활단백격매격매격매격매4(MAP4 K4)、사렬원격활단백격매격매격매15(MAP3K15)、Kruppel양전록인자7(KLF7)화NKx2-2]여반흔흘탑밀절상관.저사CNV소섭급적기인여세포표피형성여분화、세포외분비급세포점부유관.결론 공발현5개여반흔흘탑상관적CNV,기중MAP3K15화MAP4K4여반흔흘탑관계가능최위밀절.
Objective To investigate the genome copy number variation (CNV) related with keloid using the whole-gene resequencing technology.Methods A keloid pedigree containing 4 generation of 27 people was studied.Five people (4 cases of keloid patients,and 1 case of normal) were selected to extract the genomic DNA.Then the whole-gene resequencing technique was used to check the variations based on the Illumina Hiseq 2000.Results Through database comparison and variation annotation analysis,15 CNVs associated with scar hyperplasia were obtained.DAVID software was used to do the Gene Ontology and pathway analysis.Five CNVs were closely related to the keloid formation.They were growth factor receptor-bound 7 (Grb7),mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4),mitogen-activated protein kinase kinase kinase 15 (MAP3K15),kruppel-like factors 7 (KLF7) and NK2 homeobox 2 (NKX2-2).These CNVs were involved in the process of epidermal cells formation and differentiation,cell exocrine and cell adhesion.Conclusions There are 5 CNVs associated with scar hyperplasia.Especially MAP3K15 and MAP4K4 deserve more research to find their function in keloid formation.