The Maltese Human Diversity project seeks to determine the ancestral pattern of the Maltese population utilizing standard DNA-based methodologies, namely Y-chromosome haplotype (Y-STR) and mitochondrial DNA (mtDNA) analysis. This work should provide significant evidence in the determination of the ancestral nature of the Maltese population.

Determination of Y-chromosome haplotypes allows ancestors to be traced back in time by following their paternal lineage. Since the Y chromosome is exclusive to males, when it is passed from father to son its genetic composition remains practically unchanged. Thus, Y-chromosome genetic markers derived from all males of the same paternal descent are expected to be identical.

Mitochondrial DNA studies involve analysis of the DNA found within intracellular structures called mitochondria. This mtDNA is distinct from the more familiar nuclear DNA, and is unique in that it is inherited exclusively from the mother. Mitochondrial DNA analysis allows ancestry to be traced along the maternal lineage, since from one generation to the next all siblings acquire the identical mtDNA as their mother.

Utilising both these methodologies, a comparison of the genetic markers from a sample population can reveal important information about relatedness within the parent population. Comparison of the results to established databases for other populations, such as the Cambridge Reference Sequence, can also uncover relationship and ancestral links to other populations. In particular, the most recent common ancestor (MRCA) of a group of individuals can be determined based on the assumption that the number of DNA nucleotides (ATCG) differing in 2 individuals increases on average in relation to the temporal distance from their last common ancestor.

The Maltese Human diversity project is being undertaken in collaboration with Dr. Alex Aquilina, Consultant and Head of the National Blood Transfusion Center of Malta.