Tracing Maltese genetic origins

Abstract

Introduction: Malta has a rich demographic history. Historical records trace population origins to the Temple people. However, contemporary Maltese are descendants from those who re-populated the islands at the turn of the first millennium AD. Methods: Maltese mitochondrial DNA (mtDNA) and Y chromosome data are not publicly available. High-quality datasets were generated to evaluate Maltese lineages: mtDNA control region (CR) and Y-STR chromosome markers. A total of 798 samples were collected randomly Maltese mitochondrial DNA (mtDNA) and Y chromosome data are not publicly available. High-quality datasets were generated to evaluate Maltese lineages: mtDNA control region (CR) and Y-STR chromosome markers. A total of 798 samples were collected randomly with associated ancestry data from Malta and Gozo. The dataset is archived in the Malta BioBank (BBMRI.mt). The EMPOP protocol was used to amplify and sequence a subset of 300 samples with a minimum of four EMPOP sequencing primers. mtDNA haplotypes were checked on EMPOP and Phylotree and haplogroup frequencies were calculated. The PowerPlex® Y23 system was used to analyse 400 unrelated males. NevGen was used to predict Y-STR haplogroups. SNP analysis by HRM was used to confirm Y haplogroups. Results: The major Maltese mtDNAs and Y haplogroups could be attributed to West Eurasian haplogroups. mtDNA: H (35%), T (18%), K (12%), J (5%), U (5%), X (1%), W (1%); predicted Y chromosome clades: R1 (29%), J2 (22%), E1b1b (12%), G (12%), and I (10%). African mtDNA lineages were also present: L1 (0.4%), L2 (10%), L3 (1%), M1 (0.4%). Conclusion: The genetic profile obtained from the population of Malta and Gozo provides a first insight into the origins of the Maltese. The datasets can be used as the first national reference database for mtDNA and Y chromosome applications in forensic and population genetic studies. Disclosures: The research work in this publication is partially funded by the Malta Government Scholarship Scheme grant and supported by Promega, Copan Flock Technologies and GE Healthcare.