食管鳞癌组织中STR基因座和Amelogenin基因座的变异分析  

Analysis of STR loci and Amelogenin locus variants in esophageal squamous cell carcinoma tissues

作　　者：杨慧凌 江继平[4] 马栋棋 范庆炜 徐冬冬 付茂勇[2] 杜冰[1,3] YANG Hui-ling;JIANG Ji-ping;MA Dong-qi;FAN Qing-wei;XU Dong-dong;FU Mao-yong;DU Bing(School of Basic Medicine and Forensic Medicine,North Sichuan Medical College,Nanchong 637000;Affiliated Hospital of North Sichuan Medical ollege,Nanchong 637000;Judicial Appraisal Center,North Sichuan Medical College,Nanchong 637000;Evidence Identification Center,Sichuan Public Security,Chengdu 610031,Sichuan,China)

机构地区：[1]川北医学院,基础医学与法医学院,四川南充637000 [2]川北医学院,附属医院,四川南充637000 [3]川北医学院,司法鉴定中心,四川南充637000 [4]四川省公安厅物证鉴定中心,四川成都610031

出　　处：《川北医学院学报》2024年第10期1307-1312,共6页Journal of North Sichuan Medical College

基　　金：四川省基层卫生事业发展研究中心(SWFZ22-Q-59);川北医学院青年项目(CBY22-QNA25)。

摘　　要：目的:探究食管鳞癌组织中21个常染色体STR基因座及Amelogenin基因座变异情况。方法:收集89例食管鳞癌患者的新鲜肿瘤组织及对照组织,采用酚氯仿法提取组织基因组DNA。利用AGCU Expressmarker 22荧光检测试剂盒对提取的基因组DNA进行PCR扩增,AB3500遗传分析仪对PCR扩增产物进行毛细管电泳,通过GeneMapper® ID-X软件进行STR分型。结果:在89例食管鳞癌患者肿瘤样本中,检出26例STR基因型变异(STR_(GA)),占样本总数的29%,新等位基因(A_(new))、增加的等位基因(A_(add))、完全杂合性丢失(cLOH)和部分杂合性丢失(pLOH)4种变异类型均被检出,同时观察到D21S11、D12S391、vWA、FGA和D18S51基因座发生STR基因型变异频次最高,仅在D13S317、D2S441、TH01、D10S1248和Amelogenin等5个基因座未观察到STR基因型变异;本次研究采用的21个常染色体基因座中有17个出现STR基因型变异,且观察到2例肿瘤组织在多个基因座检出STR基因型变异。结论:法医DNA鉴定中常用的17个常染色体STR基因座用于食管鳞癌肿瘤组织的个体识别时,出现和对照组织分型不一致的结果,应慎重下结论。同时,STR遗传标记在食管鳞癌的临床诊疗中有一定应用潜力。Objective:To investigate the variation of 21 autosomal STR loci and Amelgenin locus(sex locus)in esophageal squamous cell carcinoma(ESCC).Methods:Fresh tumor tissues and corresponding control tissues were collected from 89 patients with esophageal squamous cell carcinoma.Genomic DNA from these tissues was extracted using the phenol-chloroform method.The extracted genomic DNA was PCR-amplified using the AGCU Expressmarker 22 fluorescent detection kit,and the PCR products were analyzed by capillary electrophoresis using an AB3500 Genetic Analyzer.STR typing was performed using GeneMapper ID-X software.Results:Among the 89 esophageal squamous carcinoma tissue samples,STR genotype variations(STR_(GA))were detected in 26 cases,accounting for 29%of the samples.Four types of variations were observed:new alleles(A_(new)),additional alleles(A_(add)),complete loss of heterozygosity(cLOH),and partial loss of heterozygosity(pLOH).The highest frequency of STR variations was observed at the D21S11,D12S391,vWA,FGA,and D18S51 loci.No STR genotype variations were observed at the D13S317,D2S441,TH01,D10S1248,and Amelogenin loci of the 21 autosomal loci studied,STR genotype alterations were found in 17,and 2 cases showed STR genotype alterations at multiple loci.Conclusion:Caution should be exercised when concluding individual identification in esophageal squamous cell carcinoma tissues using the 17 autosomal STR loci commonly employed in forensic DNA profiling,as inconsistent typing results occurred compared to control tissues.Additionally,STR genetic markers exhibit potential applications in the clinical diagnosis and treatment of esophageal squamous cell carcinoma.

关 键 词：食管鳞癌 STR基因座 个体识别 临床诊疗 

分 类 号：R89[医药卫生—法医学]