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1. 重庆医科大学基础医学院法医学教研室,重庆,400016
2. 重庆市刑事侦查技术研究中心,重庆,400016
网络出版:2017-06-14,
纸质出版:2017-06-14
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马若翔,李永国,朱 英,等. 肺癌组织中
马若翔, 李永国, 朱 英. A study on the tendency of genetic alteration ofSTRloci in human lung cancer tissues[J]. China Oncology, 2017, 27(5): 353-358.
马若翔,李永国,朱 英,等. 肺癌组织中 DOI: 10.19401/j.cnki.1007-3639.2017.05.006.
马若翔, 李永国, 朱 英. A study on the tendency of genetic alteration ofSTRloci in human lung cancer tissues[J]. China Oncology, 2017, 27(5): 353-358. DOI: 10.19401/j.cnki.1007-3639.2017.05.006.
背景与目的:在DNA水平进行个体同一认定及亲缘鉴定,是目前获得准确结论的最直接的方法,而短串联重复序列(short tandem repeat,STR)复合扩增荧光检测技术是目前应用最广泛的DNA技术。但已有研究表明STR基因座在肿瘤组织中会发生明显高于正常组织或血液的变异。该研究的目的为探索20个常染色体STR基因座及Amel基因座在人肺癌组织中的变异规律,为肺癌组织的个人识别及亲缘鉴定提供依据。方法:收集75例人肺癌组织和相对应的癌旁正常组织,采用组织DNA提取试剂盒提取DNA,Microreader
TM
21Direct ID System试剂盒进行PCR扩增,采用3130序列分析仪进行毛细管电泳,用Gene Mapper ID V3.2基因分析软件进行基因分型。结果:75例癌组织中有24例发生了STR位点的变异(32%),在21个常用STR基因座上共检出55次变异,其中等位基因增加10次,杂合性等位基因完全丢失10次,部分性丢失35次。D2S441、Penta E基因座未检出变异。结合目前实验结果与肺癌患者的临床资料分析,发现STR位点的变异与肺癌的分型、患者性别无联系(P0.05),与肺癌的分期及患者年龄正相关,各组间比较差异有统计学意义(P0.05)。结论:肺癌组织中STR基因座较常发生变异,并且变异更可能在年龄大、恶性程度高的肺癌中发生;该实验检出D2S441、Penta E基因座无变异,在今后的研究中可加大样本量,进一步验证可否将其纳入稳定的STR基因座,为肿瘤组织等特殊检材的鉴定提供依据。
Background and purpose: Short tandem repeats (STR) multiplex PCR fluorescence detection technology is the most widely used DNA technology in individual identity and genetic identification. It’s the most direct method to obtain accurate conclusions. However
some studies have indicated that the rate of STR mutations in tumor tissue is significantly higher than that in normal tissues or blood. This study aimed to investigate the tendency of genetic instability in 20 STR loci on autosomal and Amel loci in tumor tissue samples from lung
cancer. Methods: This study
collected 75 cases of human lung cancer tissues and the adjacent normal tissues. DNA samples were extracted by tissue DNA extraction kit
amplified using Microreader
TM
21 Direct ID System PCR amplification kit. Capillary electrophoresis was performed using API 3130 analyzer
and results were analyzed by genetic analysis software (Gene Mapper ID V3.2). Results: STR alterations were detected in 24 specimens from 75 lung cancer tissues (32%). Fifty-five alterations were detected in the frequntly used 21 STR loci in total
including additional alleles 10 times
loss of heterozygosity 10 times
partial loss of heterozygosity 35 times. Partial loss of heterozygosity was the most common genetic alteration types accounting for 63.64% of the total alteration frequency. And multiple genetic alteration types could occur in the same lung cancer tissue. Among them
the highest alteration frequency occurred on D5S818 (7 times)
secondly on D3S1358 and D12S391 (both 5 times)
and no alterations on D2S441 and Penta E. Combining the experimental results and analysis on clinical data
this study found the statistical differences between the staging of lung cancer and the age of the patients with the STR loci alterations (P0.05). However
the alterations did have much relationship with the classification of lung cancer and the patient's gender (P0.05). Conclusion: STR loci of the lung cancer tissue were not stable
and the alteration occurred in the aged or high malignant degree lung cancer tissue more frequently. Meanwhile
no alteration was detected on D2S441 and Penta E. In the future research the two STR loci should be verified to determine whether they can be used as the stable STR loci in such cases by increasing the sample size.
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