CAJ | 학술논문

目的利用全基因重测序技术初步探讨与瘢痕疙瘩形成相关基因的结构变异.方法选取1个典型瘢痕疙瘩家系,共4代27例,利用全基因组重测序技术,对该家系中5例(4例瘢痕疙瘩患者,1例正常人)基因组DNA进行数据分析,并对所获信息进行数据库比对和变异注释.结果通过生物信息学分析、数据库比对及变异注释后,发现了2个与瘢痕疙瘩相关的结构变异.利用靶基因功能分析软件DAVID对筛选出来的结构变异进行注释和信号通路分析,发现人四旋蛋白8(TSPAN8)在所有检测的瘢痕疙瘩患者中,均有一段168 bp的倒置,其包含了TSPAN8基因的第4个外显子.结论 TSPAN8表达的肿瘤细胞,可通过上调血管内皮生长因子及其受体的表达,促进相邻的成纤维细胞分泌基质金属蛋白酶及尿激酶.此家系中该基因4号外显子的倒置,可能会导致该蛋白在信号转导过程的调节紊乱,从而导致瘢痕疙瘩的形成.
목적 이용전기인중측서기술초보탐토여반흔흘탑형성상관기인적결구변이.방법 선취1개전형반흔흘탑가계,공4대27례,이용전기인조중측서기술,대해가계중5례(4례반흔흘탑환자,1례정상인)기인조DNA진행수거분석,병대소획신식진행수거고비대화변이주석.결과 통과생물신식학분석、수거고비대급변이주석후,발현료2개여반흔흘탑상관적결구변이.이용파기인공능분석연건DAVID대사선출래적결구변이진행주석화신호통로분석,발현인사선단백8(TSPAN8)재소유검측적반흔흘탑환자중,균유일단168 bp적도치,기포함료TSPAN8기인적제4개외현자.결론 TSPAN8표체적종류세포,가통과상조혈관내피생장인자급기수체적표체,촉진상린적성섬유세포분비기질금속단백매급뇨격매.차가계중해기인4호외현자적도치,가능회도치해단백재신호전도과정적조절문란,종이도치반흔흘탑적형성.
Objective To investigate the genome structure variation (SV) related with keloid using the whole-gene resequencing technology.Methods We studied a keloid pedigree containing 4 generation of 27 people.5 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.Results Through database comparison and variation annotation analysis,we obtained 2 SVs associated with keloid formation.We used DAVID software to do the gene ontology and pathway analysis.We found a 168 bp inversion in gene tetraspanin 8(TSPAN8) in all keloid patients,which contained the forth exon of TSPAN8.Conclusions There was no report about SVs related to keloid.In this study,we found 2 SVs associated with keloid,especially TSPAN8.The tumor cells express the TSPAN8 can up-regulate the vascular endothelial growth factor and its receptors,promote the adjacent fibroblasts secrete matrix metalloproteinases and uridylyl phosphate adenosine.So we hypothesis that the inversion of the forth exon in TSPAN8 may lead to the signal transduction disorder in the keloid patients.This study was a preliminary research.It needs a further study containing large sample to confirm.