Identification of the Mislabeled Breast Cancer Samples by Mitochondrial DNA Haplotyping
作者机构：Institute of Forensic MedicineWest China School of Basic Science and Forensic MedicineSichuan UniversityChengdu 610041Sichuan Collaborative Innovation Center of Judicial CivilizationInstitute of Evidence Law and Forensic ScienceChina University of Political Science and LawBeijing 100088China
出 版 物：《Journal of Forensic Science and Medicine》 (法庭科学与法医学杂志（英文）)
年 卷 期：2015年第1卷第2期
页 面：133-139,I0001-I0005页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：supported by the grants from the Five-twelfth National Science and Technology Support Program of China(2012BAK16B01) from the National Natural Science Foundation of China(81330073)
主 题：Breast cancer forensic genetics individual discrimination mitochondrial single nucleotide polymorphism
摘 要：The task to identify whether an archival malignant tumor specimen had been mislabeled or interchanged is a challenging one for forensic genetic&The nuclear DNA(nDNA)markers were affected by the aberration of tumor cells,so they were not suitable for personal identification when the tumor tissues were *** this study,we focused on a new solution-mitochondrial single nucleotide polymorphism(mtSNP)haplotyping by a multiplex SNaPshot *** validate our strategy of haplotyping with 25 mtSNPs,we analyzed 15 pairs of cancerous/healthy tissues taken from patients with ductal breast *** haplotypes of all the fifteen breast cancer tissues were matched with their paired breast *** heteroplasmy at 2 sites,14783A/G and 16519C/T was observed in one breast tissue,which indicated a mixture of related mitochondrial ***,only one haplotype was retained in the paired breast cancer tissue,which could be considered the result of proliferation of tumor *** allele drop-out and allele drop-in were observed when 39 STRs and 20 tri-allelic SNPs of nDNA were *** to nDNA markers applied,25 mtSNPs were more stable without interference from aberrance of breast ***,two cases were presented where the investigation of haplotype with 25 mtSNPs was used to prove the origin of biopsy specimen with breast *** mislabeling of biopsy specimen with breast cancer could be certified in one case but could not be supported in the other *** highlight the importance of stability of mtSNP haplotype in breast *** was implied that our multiplex SNaPshot assay with 25 mtSNPs was a useful strategy to identify mislabeled breast cancer specimen.
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