法医学杂志

法医学杂志 ›› 2006, Vol. 0 ›› Issue (3): 190-192.

• 论文 • 上一篇    下一篇

人类mtDNA控制区异质性

曹洋;万立华;顾林岗;黄映雪;修崇贤;胡淑辉;米粲;   

  1. 江苏省公安厅刑侦局,重庆医科大学,江苏省公安厅刑侦局,重庆市刑事科学技术研究所,重庆市刑事科学技术研究所,西南政法大学刑侦学院,重庆医科大学 江苏南京210024东南大学生物医学工程系,江苏南京210096,重庆400041,江苏南京210024,重庆400042,重庆400042,重庆400031,重庆400041
  • 发布日期:2006-06-25 出版日期:2006-06-28

Heteroplasmy in Human mtDNA Control Region

CAO YANG1,5, WAN LI-HUA2, GU LIN-GANG1, HUANG YING-XUE3, XIU CONG-XIAN3, HU SHU-HUI4, MI CAN2(1.DIVISION OF THE CRIMINAL INVESTIGATION DEPARTMENT,JIANGSU PROVINCIAL PUBLIC SECURITY BUREAU,NANGJING 210024,CHINA; 2.CHONGQING UNIVERSITY OF MEDICAL SCIENCES,C   

  • Online:2006-06-25 Published:2006-06-28

摘要： 目的观察mtDNA的点突变异质性和长度异质性。方法运用直接测序法对50名无关个体及16名母系家族成员的血液、口腔上皮细胞、头发的mtDNAHVI、HVII区序列进行分析,并对20例HVI区直接测序失败的无关个体进行克隆后测序分析。结果同一个体的三种检材样本及16名母系家族成员的序列一致,未见异质性存在;同一个体的不同克隆的C延伸区的长度有差异,存在长度异质性。但同一个体的血液和头发具有相似的长度变异类型,即长度异质性在组织间无差异。结论mtDNA碱基序列具有同质性及稳定性,适用于法医学检案。

关键词: mtDNA, 克隆测序, 点异质性, 长度异质性

Abstract: Objective To observe the length heteroplasmy and point heteroplasmy in human mtDNA control region. Methods The peripheral blood, buccal cell, and single hair shaft from 50 individuals and 16 family members, related in their maternallineage were analyzed by direct sequencing, and clones from 20 individuals whose mtDNA sequences have a T-C transition at 16189 nt were sequenced. Results No point heteroplasmy were observed in peripheral blood, buccal cell, single hair shaft from the same individual, neither in maternally related individuals. Length heteroplasmy was observed in those individuals with a homopolymeric tract and the different clones from the same individual has different proportions of length variants, but the hair shafts from the same individual were very similar to the measurements made from blood DNA. no length heteroplasmy was observed between different tissues from the same individual. Conclusion mtDNA sequences have a characteristic of high consistency and genetic stability, mtDNA sequencing is a suitable tool for forensic applications such as individual identification .

Key words: mitochondrial DNA(mtDNA), cloning sequencing, point heteroplasmy, length heteroplasmy