人肺癌组织19个常染色体STR及性别基因座变异分析

A study on genetic alteration of 19 autosomal STR loci and Amel loci in human lung cancer tissues

目的观察分析人肺癌组织19个常染色体STR及性别基因座等位基因变异情况。方法收集72例人肺癌组织和相对应的癌旁正常肺组织,采用Chelex-100法提取DNA,Golden eye 20A试剂盒进行PCR扩增,3130XL DNA遗传分析仪检测STR型别。结果 72例癌组织中有30例(41.67%),在19个常染色体STR基因座及Amel基因座上检出83次变异,其中等位基因增加11次、变更2次,杂合等位基因完全性丢失20次,部分性丢失50次。常染色体基因座检出变异次数最多为D3S1358和CSF1PO(均8次),Amel基因座检出2次变异,TPOX基因座未检出变异。杂合等位基因部分性丢失最常见,占总变异次数的60.24%,在同一肺癌组织中多个基因座可同时发生变异。结论恶性肿瘤组织较常发生等位基因变异,进行STR分析时应慎重判型。

Objective Aim to study genetic alteration of 19 short tandem repeats （STR） loci on autosomal and Amel loci in human lung cancer tissue. Methods Lung cancer tissue and responding peri-tumor normal tissue was taken from 72 different unrelated individuals. The sample was examined by means of Chelex-100 for DNA extraction, of Golden eye 20A kits for PCR amplification and of 3130XL DNA genetic analyzer for electrophoresis. Results Genetic alteration was detected in 30 specimens from 72 lung cancer tissue（41.67% ）for 83 times on 19 STR loci and Amel loci. The genetic alteration types included loss of heterozygous （20 times） , partial loss of heterozygous （50 times）, new allele （2 times） and additional allele（ll times）. Among them, the most alteration frequency occurred on D3S1358 and CSF1PO（both 8 times）. Additionally, the alteration was checked on Amel loci for 2 times, and no alteration on TPOX. The most common alteration type was partial loss of heterozygous, and its proportion was 60. 24% of the total alteration frequency. Sometimes, genetic alteration occurred on more than one loci in the same lung cancer tissue. Conclusion The exclusive conclusion for forensic personal and paternal identification must be cautious when malignant tumor tissue is applied on STR analysis specimen, since it may be resulted from genetic alteration in the unusual tissue.