CAREOMICS : x and y chromosome typing in the Maltese population : from population genetics to clinical practice

Abstract

The CAREOMICS project is establishing a national framework for advanced genetic profiling in Malta that includes sex-chromosome markers. X-chromosomal Short Tandem Repeats (X-STRs) and Y-chromosomal STRs (Y-STRs) and Single Nucleotide Polymorphisms (Y-SNPs) are powerful tools in forensic casework, complex kinship analysis and population genetics. Although Maltese studies have characterised autosomal STRs, mitochondrial DNA and Y-chromosome variation, important gaps remain for sex-chromosome data in the local population. This review summarises the rationale for focusing CAREOMICS on X- and Y-chromosome typing, outlines key findings from previous Maltese Y-chromosome work, and describes the ongoing effort to generate the first systematic X-STR haplotype database for Malta. The clinical and forensic implications for healthcare professionals are discussed, particularly for kinship testing, missing-person identification and the interpretation of complex family structures in a small, historically rich island population.