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Forensic Sci Int Genet. 2020 Feb 13;46:102262. doi: 10.1016/j.fsigen.2020.102262. [Epub ahead of print]

Spanish allele and haplotype database for 32 X-chromosome Insertion-Deletion polymorphisms.

Author information

1
Laboratory of Forensic and Population Genetics, Legal Medicine, Psychiatry and Pathology Department, Medicine School, Complutense University of Madrid (UCM), Pza. Ramón y Cajal s/n 28040 Madrid, Spain; Legal Medicine, Psychiatry and Pathology Department, Medicine School, Complutense University of Madrid (UCM), Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain. Electronic address: clopes01@ucm.es.
2
Laboratory of the Biology Department, Criminalistics Service, Civil Guard, Madrid, Spain.
3
Instituto de Investigação e Inovação em Saúde da Universidade do Porto (i3S), Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal.
4
Laboratory of Forensic and Population Genetics, Legal Medicine, Psychiatry and Pathology Department, Medicine School, Complutense University of Madrid (UCM), Pza. Ramón y Cajal s/n 28040 Madrid, Spain; Legal Medicine, Psychiatry and Pathology Department, Medicine School, Complutense University of Madrid (UCM), Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
5
Sección de Genética y Criminalística, Servicio de Laboratorio, Instituto de Medicina Legal y Ciencias Forenses de Valencia, Spain.
6
Legal Medicine School, Complutense University of Madrid, Pza Ramón y Cajal s/n, 28040 Madrid, Spain.

Abstract

X-chromosome markers have been proved to be decisive both complementing and solving kinship analysis, particularly when autosomal markers are not able to produce adequate likelihood ratios between different hypothesis. On the other hand, Pereira et al., (2012) have demonstrated that 32 Insertion/Deletion (InDel) markers located on the X-Chromosome have a very important power of discrimination in human populations, being a novel tool in the forensic and population fields. So, the aim of the present work was testing the forensic and population genetic efficiency of the 32 X-InDel polymorphisms in the Spanish population, and subsequently build an allele/haplotype frequencies database. To accomplish this objective, a total of 555 samples comprising male individuals from 13 Spanish regions were analysed for the above mentioned 32 X-InDels in two independent laboratories. A pairwise FST analysis was performed in order to understand if the studied Spanish sub-populations present significant differences among them, detecting possible population substructure. Also, linkage disequilibrium analyses were computed to investigate the presence of association between markers in the Spanish population. After Bonferroni correction, the absence of significant differences among the studied regions supports a global Spanish population database. Concerning LD, besides previously reported linked markers MID356-MID357 and MID3690-MID3719-MID2089, we also detected significant association between MID3703-MID3774, even after Bonferroni correction. Finally, after computing allele and haplotype frequencies, forensic efficiency parameters were calculated (PDmales = 99.999976 %; PDfemales = 99.99999999998 %). Mean exclusion chance values for duos were 0.999 and trios 0.99999. These results reinforce the suitability of the 32 X-InDels marker set both in identification and kinship studies.

KEYWORDS:

Allele frequencies; Haplotype frequencies; Spanish population; X-InDels

Conflict of interest statement

Declaration of Competing Interest The authors have declared no conflict of interest.

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