法医学杂志 ›› 2009, Vol. 0 ›› Issue (6): 412-416+.

• 论文 • 上一篇    下一篇

共有基因座数和等位基因数用于结直肠癌组织的身源认定

赵书民;李成涛;张素华;李莉;   

  1. 司法部司法鉴定科学技术研究所上海市法医学重点实验室;复旦大学生命科学学院;苏州大学医学部法医学系;
  • 发布日期:2009-12-25 出版日期:2009-12-28

Application of Number of Matched STR Loci and Identical Alleles in Individual Discrimination of Colorectal Cancer

ZHAO SHU-MIN1, LI CHENG-TAO1,2, ZHANG SU-HUA1,3, LI LI1 (1. SHANGHAI KEY LABORATORY OF FORENSIC MEDICINE, INSTITUTE OF FORENSIC SCIENCE, MINISTRY OF JUSTICE, P.R.CHINA, SHANGHAI 200063, CHINA; 2. SCHOOL OF LIFE SCIENCES, FUDAN UNIVERSITY, SHANGHAI 200433,   

  • Online:2009-12-25 Published:2009-12-28

摘要: 目的探讨结直肠癌组织中STR基因座变异情况及其身源认定方法。方法用Identifiler系统对50对新鲜结直肠癌组织及其身源正常组织(CR-N)组进行STR分型,计算CR-N组中变异STR基因座及全不同基因座数(A0)、半相同基因座数(A1)、全相同基因座数(A2)和共有等位基因数(IAn),比较CR-N组、无关个体对(UI)组和全同胞对(FS)组中上述参数的分布差异,通过判别分析建立判别函数。结果结直肠癌组织中STR基因座基因型改变发生率为3.33%。CR-N组中A1、A2和IAn呈显著偏态分布并与其在UI或FS组中分布差异显著。依据IAn、A1/A2分别建立了CR-N与UI、CR-N与FS的判别函数,其对结直肠癌组织身源认定错判率均为0.00%。结论结直肠癌组织中STR基因座基因型改变发生率较高;本研究所建立的判别函数是进行结直肠癌组织身源认定的一种可行方法。

关键词: 法医遗传学, 结直肠肿瘤, 判别分析, 共有基因座, 共有等位基因, 个体识别

Abstract: Objective To establish a feasible algorithm for individual identification of colorectal cancer tissue by investigating its STR mutation. Methods Fifty pairs of fresh colorectal cancer and homologous normal tissues(CR-N group) were genotyped with Identifiler Kit and the mutations generated in cancer tissues were determined. The mutation rates, the numbers of locus matched without identical allele(A0), 1 identical allele(A1), or 2 identical alleles(A2) and the number of total identical alleles(IAn) were calculated. Frequency distributions of A0, A1, A2 and IAn were compared among CR-N group, unrelated individual pairs(UI group) and full sibling pairs(FS group). Discrimination functions were established for individual identification from tumor tissues with discriminatory analysis. Results The frequency of STR genotypic alteration(STRGA) was 3.33% in the 50 colorectal cancer samples. A1, A2 and IAn were fitted to skew distribution in CR-N group, which were significantly different from those in UI or FS group. Based on IAn and A1/A2, discrimination functions were established and validated with an error rate as low as 0.00% for indi- vidual identification from colorectal cancer tissue. Conclusion Discrimination functions established in this study could be a feasible method for individual identification of colorectal cancer samples, which usually have a high frequency of STRGA.

Key words: forensic genetics, colorectal neoplasms, discriminant analysis, matched locus, identical allele, personal identification