Mitochondrial DNA control region database in Banco Nacional de Datos Genéticos, Argentina

Abstract To analyze the distribution of different haplotypes of mitochondrial control region DNA in a large sample of argentine population who assisted to the Banco Nacional de Datos Geneticos (BNDG) looking for their identity in cases of civil state suppression during the dictatorial government (1976–1983). A total of 1168 unrelated argentine individuals who assisted to the BNDG were sampled for the analysis. Mitochondrial DNA Control Region sequences were determined for both hypervariable regions 1 (HV1) and 2 (HV2). Blood samples were used as the DNA source. The amplification for both hypervariable regions was performed in a Perkin Elmer 9700 thermal cycler. The cycle sequencing was performed using the BigDye ® Terminator v 1.1 Cycle Sequencing Kit (Applied Biosystems) and automated sequencing was performed in an ABIPRISM ® 3100 Genetic Analyzer (Applied Biosystems). Analysis of mitochondrial DNA sequencing data was performed by manual method. The hypervariable region 1 (HV1) was analyzed between positions 16023 and 16428 and the hypervariable region 2 (HV2) between 50 and 480 according to the Anderson Sequence. To analyze these results a database was created and statistical parameters were calculated. From 1168 haplotypes analyzed, 794 were unique. Haplotype frequencies were estimated by haplotype counting. Values of Genetic Identity ( P ) and Genetic Diversity ( h ) were calculated, being 3.3939×10 −3 and 0.9974 respectively. This Mitochondrial Control Region DNA database provides useful information for genetic profiles comparison and maternal lineage determination in our lab.