AmericaPlex26: a SNaPshot multiplex system for genotyping the main human mitochondrial founder lineages of the Americas

Autor: Isabel Flores Espinoza, Alan Cooper, Wolfgang Haak, Maria Inés Barreto Romero, Guido Valverde, Lars Fehren-Schmitz, Bastien Llamas, Alexandra Coutinho
Přispěvatelé: Achilli, Alessandro
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Evolutionary Genetics
Genotyping Techniques
Social Sciences
lcsh:Medicine
Haplogroup
0302 clinical medicine
Indians
South American
lcsh:Science
Phylogeny
Ancient DNA
DNA sequencing
Mitochondria
Mitochondrial DNA
Native Americans
Paleogenetics
Phylogeography
Polymerase chain reaction
Genetics
0303 health sciences
education.field_of_study
Multidisciplinary
Genome
Genomics
Single Nucleotide
Founder Effect
Mitochondrial
Genes
Mitochondrial

Archaeology
Physical Anthropology
Research Article
General Science & Technology
Genetics
Medical

1.1 Normal biological development and functioning
Population
Biology
Polymorphism
Single Nucleotide

Sensitivity and Specificity
03 medical and health sciences
Genomic Medicine
Underpinning research
Medical
MD Multidisciplinary
Humans
Genetic Testing
030216 legal & forensic medicine
Polymorphism
education
Genotyping
American Indian or Alaska Native
030304 developmental biology
Evolutionary Biology
Genetic diversity
Population Biology
Indians
South American

lcsh:R
Haplotype
Human Genome
Biology and Life Sciences
Paleontology
Human Genetics
Haplotypes
Genes
Anthropology
Genome
Mitochondrial

Mutation
Genetic Polymorphism
lcsh:Q
Paleobiology
Multiplex Polymerase Chain Reaction
Population Genetics
Zdroj: PloS one, vol 9, iss 3
PLoS One
PLoS ONE, Vol 9, Iss 3, p e93292 (2014)
PLoS ONE
Popis: Phylogeographic studies have described a reduced genetic diversity in Native American populations, indicative of one or more bottleneck events during the peopling and prehistory of the Americas. Classical sequencing approaches targeting the mitochondrial diversity have reported the presence of five major haplogroups, namely A, B, C, D and X, whereas the advent of complete mitochondrial genome sequencing has recently refined the number of founder lineages within the given diversity to 15 sub-haplogroups. We developed and optimized a SNaPshot assay to study the mitochondrial diversity in pre-Columbian Native American populations by simultaneous typing of 26 single nucleotide polymorphisms (SNPs) characterising Native American sub-haplogroups. Our assay proved to be highly sensitive with respect to starting concentrations of target DNA and could be applied successfully to a range of ancient human skeletal material from South America from various time periods. The AmericaPlex26 is a powerful assay with enhanced phylogenetic resolution that allows time- and cost-efficient mitochondrial DNA sub-typing from valuable ancient specimens. It can be applied in addition or alternative to standard sequencing of the D-loop region in forensics, ancestry testing, and population studies, or where full-resolution mitochondrial genome sequencing is not feasible. peerReviewed
Databáze: OpenAIRE