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

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 Genéticos (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.