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Updated: Aug 7, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Study of 3 hypervariable loci in a mixed Chilean population]
M R Novoa1, C Labbé, H Jorquera
1Unidad de Biología Molecular, Departamento de Laboratorios, Servicio Médico 'Legal y Programa de Genética Humana, ICBM, Facultad de Medicina de la Universidad de Chile. Casilla 70061, Santiago 7, Chile.
Background:
Genetic markers are useful to study evolution parameters in populations and to determine kinship.
Aim:
To characterize three short tandem repeat loci in a sample of Chilean subjects and compare them with Caucasian and Hispanic populations.
Material And Methods:
Three hundred ninety three unrelated subjects that were sent for genetic studies from courts of justice, were studied. The loci FESFPS, F13A01 and vWA in blood samples, were typified amplifying DNA by polymerase chain reactions.
Results:
The three studied loci were highly polymorphic. F13A01 and FESFPS were in Hardy-Weinberg genetic equilibrium. A significant excess of heterozygotes was detected for vWA locus. There were no differences in allele frequencies, according to ethnic origins of last names. Allele frequencies for F13A01 and vWA loci were similar to those of Hispanic populations of Unites States and FESFPS loci was different.
Conclusions:
All three loci had a high efficiency for genetic identification tests according to the estimated a priory exclusion probability.
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