Comparison of the discrimination power between polymorphisms in HV3 region and SNPs in the coding region of mtDNA for human identification

• Grant number: 09/05564-4
• Support Opportunities: Regular Research Grants
• Start date: September 01, 2009
• End date: December 31, 2011
• Field of knowledge: Health Sciences - Medicine - Legal Medicine and Deontology
• Principal Investigator: Cintia Fridman Rave
• Grantee: Cintia Fridman Rave
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• City of the host institution: São Paulo

Abstract

The analysis of mtDNA sequences has found great application in the human identification field, and the high number of mtDNA molecules found by cell increases the possibility of some copies to survive in degraded samples, allowing the genotyping of samples as bones, saliva, nails and hair. Important properties of mtDNA as the exclusively maternal inheritance, the absence of recombination and the high rate of mutation in the control region provide the high index of polymorphism, mainly in hipervariables regions HV1 and HV2. However, although highly polymorphics, one limitation to the use of these regions is the presence of many highly common polymorphisms, resulting in sequences (or haplotypes) common to more than one individual or maternal lineages, in different populations. Thus, the use of additional mtDNA markers to the classic sequencing of HV1 and HV2 can increase the power of discrimination of common haplotypes and, therefore, of individuals. The main goal of this project is the analysis and comparison of the discrimination power between polymorphisms in the sub-region HV3 of the mtDNA control region and SNPs localized in the coding region. For this, we are going to study pairs of mothers and children which could not previously be individualized and matched through the analysis of HV1 and HV2 (Projeto FAPESP 04/12145-4). As by-product, we will evaluate the types and frequency of the polymorphisms in HV3 region in a sample of Brazilian population. (AU)