Assessing the potential application of X-chromosomal haploblocks in population genetics and forensic studies

TY - GEN

T1 - Assessing the potential application of X-chromosomal haploblocks in population genetics and forensic studies

AU - Pereira, Vania

AU - Tomas Mas, Carmen

AU - Pietroni, Carlotta

AU - Andersen, Jeppe Dyrberg

AU - Fordyce, Sarah Louise

AU - Pinto, N

AU - Mikkelsen, Martin

AU - Børsting, Claus

AU - Amorim, Antonio

AU - Gusmao, Leonora

AU - Prata, M

AU - Morling, Niels

PY - 2013/11/4

Y1 - 2013/11/4

N2 - Haploblocks are segments of the genome with little recombination that may be of interest in forensic and population genetics. Criteria to select autosomal haploblocks have been previously described, leading to the identification of candidate regions that, a priori, met the conditions to be used as forensic genetic markers. Still, the potential of X-chromosomal haploblocks remains unexplored. The present work aimed to provide basis for designing strategies for selection of X-haploblocks defined by single nucleotide polymorphisms (SNPs) using next generation sequencing approach. The potential application in population genetics and forensic studies was addressed. One of the conditions considered in the haploblock selection was the simultaneous inclusion of short tandem repeats (STRs) currently used in forensic casework to allow the distinction between SNP-defined haplotypes and increase the resolution for fine-scale studies. Given the size of the X chromosome (~150. Mbps), only four haploblocks could be selected in order to guarantee their independence.

AB - Haploblocks are segments of the genome with little recombination that may be of interest in forensic and population genetics. Criteria to select autosomal haploblocks have been previously described, leading to the identification of candidate regions that, a priori, met the conditions to be used as forensic genetic markers. Still, the potential of X-chromosomal haploblocks remains unexplored. The present work aimed to provide basis for designing strategies for selection of X-haploblocks defined by single nucleotide polymorphisms (SNPs) using next generation sequencing approach. The potential application in population genetics and forensic studies was addressed. One of the conditions considered in the haploblock selection was the simultaneous inclusion of short tandem repeats (STRs) currently used in forensic casework to allow the distinction between SNP-defined haplotypes and increase the resolution for fine-scale studies. Given the size of the X chromosome (~150. Mbps), only four haploblocks could be selected in order to guarantee their independence.

M3 - Conference article

SN - 1875-1768

VL - 4

SP - e9-e10

JO - Forensic Science International: Genetics. Supplement Series

JF - Forensic Science International: Genetics. Supplement Series

IS - 1

T2 - 25’th congress of the International Society of Forensic Genetics

Y2 - 2 September 2013 through 7 September 2013

ER -