| 李璐,刘晓龙,张晗,刘奇,王业全,崔文.甲状腺乳头状癌STR基因座突变分析[J].济宁医学院学报,2019,42(3):185-188,195 |
| 甲状腺乳头状癌STR基因座突变分析 |
| The analysis of the autosomal STR mutation in papillary thyroid cancer |
| 投稿时间：2019-04-09 |
| DOI：10.3969/j.issn.1000-9760.2019.03.008 |
| 中文关键词: 甲状腺乳头状癌;短串联重复序列;激光捕获显微切割技术;基因突变 |
| 英文关键词: Papillary thyroid cancer (PTC);Short tandem repeat (STR);Laser capture microdissection;Genetic mutation |
| 基金项目:济宁医学院教师科研扶持项目（JY2017FY001，JYFC2018FY004）；国家级大学生创新创业训练计划项目（201610443028） |
| 作者 | 单位 | E-mail | | 李璐 | 济宁医学院附属医院, 济宁 272029 | | | 刘晓龙 | 济宁医学院附属医院, 济宁 272029 | | | 张晗 | 济宁医学院附属医院, 济宁 272029
济宁医学院法医学与医学检验学院, 济宁 272067 | | | 刘奇 | 济宁医学院法医学与医学检验学院, 济宁 272067
济宁医学院司法鉴定中心, 济宁 272013 | | | 王业全 | 济宁医学院法医学与医学检验学院, 济宁 272067
济宁医学院司法鉴定中心, 济宁 272013 | wangyequan1103@163.com | | 崔文 | 济宁医学院法医学与医学检验学院, 济宁 272067
济宁医学院司法鉴定中心, 济宁 272013 | cuiwenmd@163.com |
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| 中文摘要: |
| 目的 应用显微切割技术探讨甲状腺乳头状癌（papillary thyroid cancer，PTC）常染色体STR基因座的突变类型及突变规律，为PTC肿瘤组织在法医学组织身源鉴定中的应用提供理论基础。方法 收集2011年1月至8月济宁医学院附属医院41例PTC患者的甲状腺手术切除组织，制作冰冻切片，应用激光捕获显微切割技术分离肿瘤细胞与肿瘤旁正常间质细胞，分别提取两种细胞的DNA，采用华夏白金PCR试剂盒及Goldeneye 20A试剂盒对上述样本进行PCR扩增，扩增产物进行电泳和基因分型，最后对比分析肿瘤细胞与正常间质细胞STR分型结果。结果 41例标本中有15例发生STR基因座突变（共计22个），分别为：增加等位基因（1个）、新等位基因的出现（7个）、杂合性完全丢失（3个）以及杂合性部分丢失（11个）。vWA、D16S539、D8S1179、D21S11、D5S818、D13S317、D10S1248和D1S1656基因座均未发现突变。结论 PTC肿瘤组织存在STR基因座突变，在应用PTC肿瘤组织的实际检案中需谨慎；本研究筛选出的8个未发生突变的STR基因座可作为PTC肿瘤组织身源鉴定的备选基因座。 |
| 英文摘要: |
| Objective To explore the types and rule of autosomal STR mutation in papillary thyroid cancer tumor and to provide theoretical basis for the forensic origin identification of tumor tissue.Methods 41 surgically removed papillary thyroid cancer (PTC) specimens were collected from affiliated hospital of Jining Medical University during January to August in 2011.Making frozen sections and using laser capture microdissection to separate PTC tumor cells from normal stromal cells of adjacent normal tissues DNA which was extracted from those cells was amplified using Goldeneye 20A amplification system and Huaxia Platinum amplification system.Electrophoresis of PCR products were carried out on ABI 3500 Genetic Analyzer.To obtain STR genotype of tumor cells and normal stromal cells,the data was analyzed by GeneMapper ID-X software.Record the locus and type of STR mutation.Results STR alterations were detected in 15 specimens from 41 PTC specimens (totaling 22 times).We observed four types of variation between tumor cells and normal stromal cells:occurrence of an additional allele(1 time),occurrence of a new allele instead of that found in normal tissue(7 times),complete loss of one allele (LOH,3 times) and partial loss of one allele (pLOH,11 times).No STR mutation was found in vWA,D16S539,D8S1179,D21S11,D5S818,D13S317,D10S1248 and D1S1656.Conclusion STR mutation was found in PTC.Great care should be taken in the evaluation of the DNA typing results obtained from malignant tissues of PTC.The study finds 8 autosomal STRs without STR mutation which can be used as alternative loci in individual identification of PTC and guide further study in a large sample. |
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