Mitochondrial DNA sequences for 118 individuals from northeastern Spain

Area of Science:

• Genetics
• Forensic Science
• Population Studies

Background:

• Mitochondrial DNA (mtDNA) analysis is crucial for forensic casework.
• Understanding population-specific mtDNA variation is essential for accurate interpretation.
• Previous studies have established mtDNA databases for various European populations.

Purpose of the Study:

• To generate a population database of mitochondrial DNA (mtDNA) control region polymorphisms in a Spanish Caucasoid cohort.
• To determine the frequency and diversity of mtDNA haplotypes within this population.
• To assess the utility of this database for forensic applications.

Main Methods:

• Polymerase chain reaction (PCR) amplification of mtDNA hypervariable regions I and II (HVRI and HVRII).
• Direct sequencing of amplified mtDNA regions.
• Analysis of sequence polymorphisms and calculation of genetic diversity metrics.

Main Results:

• A database of 102 distinct mtDNA sequences from 118 individuals was established, identified by 105 variable positions.
• The most common mtDNA sequence was found in 6 individuals, aligning with frequencies in other European populations.
• High genetic diversity (0.99) was observed, with a 1.3% probability of random individuals sharing identical mtDNA haplotypes. Transitions constituted the majority of variations (88%).

Conclusions:

• The generated Spanish mtDNA database provides critical frequency data for forensic casework.
• This study highlights the importance of population-specific mtDNA databases for accurate statistical evaluation in forensic identification.
• The findings contribute to the broader understanding of European mtDNA population genetics.