法医学杂志

法医学杂志 ›› 2009, Vol. 0 ›› Issue (6): 417-420.

• 论文 • 上一篇    下一篇

肿瘤组织中部分杂合性丢失判定标准的适用性评估

李成涛;赵书民;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

Evaluation of the Criterion of Partial Loss of Heterozygous in Tumor Tissues

LI CHENG-TAO1,2, ZHAO SHU-MIN1, 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

被引次数

2

摘要： 目的对肿瘤组织中部分杂合性丢失(partial loss of heterozygous,pLOH)的判定标准在Identifiler系统中的适用性进行评估。方法将696例正常无关个体Identifiler数据中共8428个杂合子基因座,对两个体同一杂合子基因座随机配对,构建两等位基因峰高或峰面积比值比。77对肿瘤-正常组织对Identi-filer分型数据中共896对杂合子基因座,将肿瘤组织与其身源正常组织配对构建两等位基因峰高或峰面积比值比。对上述比值比频率分布进行曲线拟合,按比值比<0.5和>2.0的标准判断正常无关个体对杂合子不均匀扩增误判为pLOH的比例,并比较依据峰高比值比和峰面积比值比对pLOH检出率的差异。结果正常无关个体对中共4214对杂合子基因座对的比值比和肿瘤-正常组织对中共896对杂合子基因座对的比值比均呈正态分布。按照峰高或峰面积比值比<0.5和>2.0的标准,正常无关个体对中有0.12%误判为pLOH。依据峰高比和依据峰面积比对肿瘤组织中pLOH检出率的差异无统计学意义(P=0.5632)。结论以峰高比值比或峰面积比值比(<0.5或>2.0)作为肿瘤组织中pLOH判断方法和标准适用于Identifiler系统。

关键词: 法医遗传学, 肿瘤, 部分杂合性丢失, 判定标准

Abstract: Objective To evaluate the applicability of partial loss of heterozygous(pLOH) criteria in tumor tissues with Identifiler system. Methods Eight thousand four hundred and twenty eight heterozygous loci of the 696 unrelated individuals (UIP) genotyped with Identifiler Kit were randomly paired by locus to construct odds ratio of allelic peak height (or area under allelic curve) according to the given formula. Similarly, odds ratios of allelic peak height (or area under allelic curve) of the 896 heterozygous loci of 77 pairs of tumor and homologous normal tissues(TNP) were also acquired. Curve fitting was performed to determine the distribution of the odds ratio. The proportion of pLOH in two groups was determined with odds ratio less than 0.5 or higher than 2.0. Compared the relevance ratio of allelic peak height and peak area by χ2 test. Results The odds ratio of both peak height and peak area presented normal distribution in UIP (4 214 heterozygous loci pairs) and TNP group(896 heterozygous loci pairs). There was 0.12% of normal heterozygous in UIP group erroneously presumed as pLOH with current criteria(<0.5 or >2.0). There was no significantly difference between the calling rate based on two types of odd ratio(P=0.563 2). Conclusion It is feasible to determine the pLOH in tumor tissue with Identifiler system by both peak height and peak area according to the standards of the odds ratio less than 0.5 or higher than 2.0.

Key words: forensic genetics, neoplasms, partial loss of heterozygous, criterion