Y-chromosome analysis recapitulates key events of Mediterranean populations.

The remarkable geographical situation of the Mediterranean region, located between Europe, Africa, and Asia, with numerous migratory routes, has made this area a crucible of cultures. Studying the Y-chromosome variability is a very performant tool to explore the genetic ancestry and evaluate scenarios that may explain the current Mediterranean gene pool. Here, six Mediterranean populations, including three Balearic Islands (Ibiza, Majorca, and Minorca) and three Southern Italian regions (Catanzaro, Cosenza, and Reggio di Calabria) were typed using 23 Y-STR loci and up to 39 Y-SNPs and compared to geographically targeted key reference populations to explore their genetic relationship and provide an overview of Y-chromosome variation across the Mediterranean basin.

Development and validation of a new multiplex for upgrading Y-STRs population databases from 12 to 23 markers and its forensic casework application.

Y chromosomal short tandem repeats (Y-STRs) are used in forensic investigations as a useful complementary tool to autosomal markers. The ongoing development of new kits with an increasing number of markers makes it necessary to update populations typed in the Y-STR Haplotype Reference Database to reach at least 23 Y-STRs. A novel Y-STR multiplex panel was developed to offer a cost-efficient alternative to update Y-STR haplotypes from 12 to 23 loci.

identification and expression analysis of breast cancer-related mA-SNPs.

Research on mA-associated SNPs (mA-SNPs) has emerged recently due to their possible critical roles in many key biological processes. In this sense, several investigations have identified mA-SNPs in different diseases. In order to gain a more complete understanding of the role that mA-SNPs can play in breast cancer, we performed an analysis to identify the mA-SNPs associated with breast cancer and to evaluate their possible effects.

Post-Austronesian migrational wave of West Polynesians to Micronesia.

This study examines Y-chromosome and mtDNA markers in the population of the island of Kiritimati in the context of geographically targeted reference populations from the Pacific. Kiritimati derives its population from the atoll islands of the Gilbert Archipelago and representsa geographicaltransitional region between Micronesia, Polynesia and Melanesia that likely played a critical role during theAustronesian expansion. The large presence(84.

Study of 17 X-STRs in Native American and Mestizo populations of Central America for forensic and population purposes.

In the present work, an extensive analysis of the X-chromosomal pool of Native American and Mestizo groups of Central America (Guatemala, El Salvador, Nicaragua, and Panama) has been carried out. Allele and haplotype frequency databases, as well as other forensic parameters for these populations, are presented. The admixture analysis supports the tri-hybrid composition in terms of ancestry in the Mestizo populations, with a predominant Native American contribution (54-69%), followed by European (19-28%) and African contributions (12-19%).

Association of LCT -13910C>T polymorphism and hip fracture in a cohort of older adult population from Northern Spain.

Hip fracture is a common health problem very frequent in the older adult population and is associated with significant morbidity, mortality, and societal costs. There are several factors that increase the risk of suffering a hip fracture, however, the effect of genetic lactase non-persistence is not clear-cut yet. For this reason, we investigated if the LCT -13910C>T polymorphism is a potential risk factor for osteoporotic hip fractures in older adult people from the Northern Spain population.