title: Novel methods of molecular sex identification from skeletal tissue using the amelogenin gene.
abstract: Sex identification from skeletal material is of vital importance in order to reconstruct the demographic variables of an individual in forensic genetics and ancient DNA (aDNA) analysis. When the use of conventional methods of sex identification are impossible, molecular analysis of the X and Y chromosomes provides an expedient solution. Two novel systems of molecular sex identification suitable for skeletal material using the amelogenin gene are described, beginning in intron 2-3, spanning exon 3 and ending in intron 3-4. This area was optimal for sexing, as it includes 14 sex-specific polymorphic regions in addition to an indel (insertion or deletion of nucleotides). Once optimised and working with 100% efficiency on the controls, these procedures were applied to a collection of miscellaneous archaeological skeletons (ex situ) sourced from the Raymond Dart Collection of Human Skeletons (Dart Collection). This collection was used to optimise these techniques for skeletal remains derived from an archaeological context. These methods produced 46.66% sex results for the ex situ sample, which is within the normal range for aDNA studies. These new techniques are optimal for sex identification, with both the inherent control of isolating many sex-specific features and combined with the use of sensitive micro-fluidic electrophoresis.
authors.affiliation: Department of Internal Medicine, University of the Witwatersrand, 7 York Rd, Johannesburg, 2193 Parktown, South Africa. gibbonv@gmail.com
authors.forename: Victoria
authors.initials: V
authors.lastname: Gibbon
authors.forename: Maria
authors.initials: M
authors.lastname: Paximadis
authors.forename: Goran
authors.initials: G
authors.lastname: Strkalj
authors.forename: Paul
authors.initials: P
authors.lastname: Ruff
authors.forename: Clem
authors.initials: C
authors.lastname: Penny
mesh_terms: D053523:Amelogenin / Q000235:genetics*; D001483:Base Sequence; D001842:Bone and Bones / Q000737:chemistry; D041321:Chromosomes, Human, X / Q000737:chemistry; D041322:Chromosomes, Human, Y / Q000737:chemistry; D053803:Forensic Genetics / Q000379:methods; D006801:Humans; D008969:Molecular Sequence Data; D010163:Paleontology / Q000379:methods; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012689:Sequence Homology, Nucleic Acid; D012732:Sex Determination Analysis / Q000379:methods*; D054881:Sex Determination by Skeleton / Q000379:methods*
chemical_list: D053523:Amelogenin