This study aims to portray the complex diversity of the Mexican Mestizo population, which represents 98.8% of the entire population of Mexico. We compiled extended haplotype data of the Y chromosome from populations in the Central Valley of Mexico (CVM), which were compared to other Mestizo and parental (Amerindian, European and African) populations. A complex ancestral relationship was found in the CVM population, suggesting cosmopolitan origins.Nevertheless, the most preeminent lineages point towards a European ancestry, where the R1b was the most frequent. In addition, important frequencies of Amerindian linages were also found in the Mestizo sample studied. Interestingly, the Amerindian ancestry showed a remarkable substructure, which was represented by the two main founding lineages: QL54 (x M3) and M3. However, even within each lineage a high diversity was found despite the small number of samples bearers of these lineages. Further, we detected important genetic differences between the CVM populations and the Mexican Mestizo populations from the north and south. This result points to the fact that Mestizo populations present different ancestral proportions, which are related to the demographic events that gave origin to each population. Finally, we provide additional forensic statistical parameters that are useful in the interpretation of genetic analysis where autosomal loci are limited. Our findings illustrate the complex genetic background 3 of the Mexican Mestizo population and reinforce the need to encompass more geographic regions to generate more robust data for forensic applications.
Materials and Methods
Population of studyBlood samples were collected from 231 unrelated men belonging to the Mexican Mestizo population having at least three generations of ancestors born in Mexico.The studied population was recruited from Mestizos living in the Central Valley of the country (North-Central and East-Central regions) (Figure 1). This population included 121 men from Querétaro and 63 men from Guanajuato (North-Central region), as well as 47 men from Puebla (East-Central region).
7Each individual signed an informed consent validated by the Ethics Committee of the Bimodi's Research Unit. In addition, genealogical data were also obtained from each person to ensure that the individuals were unrelated through at least three generations.
Molecular Analysis
Y-chromosome haplotypingGenomic DNA was extracted from peripheral blood leukocytes using Qiamp
Statistical and phylogenetic analysis8
Population genetics parametersAllele and haplotype frequencies, number of alleles (k), haplotype diversity (HD), genetic diversity over loci (h), and mean pairwise differences were estimated using Arlequin v. 3.5 software (Excoffie et al. 2010). Number of unique haplotypes (nuh) was estimated by direct counting. The following forensic parameters were determined: discrimination capacity (DC) was calculated by the expression: DC=h/n, where "h" is the total number of different haplotypes and "n"is the total number of i...