鼻咽癌组织STR基因座变异的研究

Study on the variation of STR locis in nasopharyngeal carcinoma tissue

目的:探讨鼻咽癌组织21个常染色体STR基因座及Amel基因座等位基因的变异情况。方法:收集79例鼻咽癌患者的石蜡组织切片和外周静脉血,采用TIANamp FFPE DNA Kit试剂盒提取石蜡组织切片样本基因组DNA,Chelex-100提取血液样本基因组DNA。通过AGCU Expressmarker 22试剂盒进行PCR扩增,AB 3500 Genetic Analyzer检测STR型别。结果:79例鼻咽癌组织中,STR变异率为32.9%(26/79),变异类型包括Aadd、Anew、LOH、pLOH,发生率分别是6.3%、1.3%、6.3%、31.6%。在检测的STR基因座中有19个位点发生了变异,变异次数最多的基因座是D3S1358,D7S820、D19S433和Amel基因未发生变异。STR变异与鼻咽癌患者的性别、年龄、临床分期等均无明显相关性(P>0.05)。结论:鼻咽癌组织中STR基因座存在变异,但STR变异与患者性别、年龄、临床分期等无明显相关性。鼻咽癌组织中D3S1358基因座的变异率高,D7S820、D19S433和Amel基因座未发生变异。

Objective:To observe and analyze the allele variation of 21 autosomal STR locis and Amel loci in nasopharyngeal carcinoma.Methods:Paraffin embedded tissues and venous blood of 79 patients with nasopharyngeal carcinoma were collected, genomic DNA of paraffin embedded tissues was extracted by TIANamp FFPE DNA Kit, and genomic DNA of blood sample was extracted by Chelex-100.Multiplex amplification was operated by AGCU Expressmarker 22 fluorescence detection kit, and genotype of STR locis were detected by AB 3500 Genetic Analyzer.Results:STR variations occurred in 26 of the 79 nasopharyngeal carcinoma cases, with a STR variation rate of 32.9%.The types of mutation were Aadd, Anew, LOH and pLOH,whose occurrence rates were 6.3%,1.3%,6.3% and 31.6% respectively.A total of 19 STR locis were mutated in detected STR locis.The locus with the most mutations was D3S1358.The locis which had no mutations were D7S820,D19S433 and Amel.There was no significant correlation between STR variation and gender, age, clinical stage of nasopharyngeal carcinoma(P>0.05).Conclusion:There are variations of STR locis in nasopharyngeal carcinoma tissues, but there is no significant correlation between STR variation and gender, age, and clinical stage.The mutation rate of D3S1358 loci is high in nasopharyngeal carcinoma, but D7S820,D19S433 and Amel loci do not have mutation.