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Variation in Optineurin (OPTN) Allele Frequencies between and within Populations
(Molecular Vision, 2007-02-02)
Acceso abierto
PURPOSE: To evaluate the extent to which mutations in the optineurin (OPTN) glaucoma gene play a role in glaucoma in
different populations.
METHODS: Case-controlled study of OPTN sequence variants in individuals with or ...
Mannose-binding lectin and its genetic variants
(Genes and Immunity, 2006-06-05)
Acceso abierto
Mannose-binding lectin (MBL) is a collagen-like serum protein that mediates activation of the complement system and is of
importance for host defence. Common variant alleles situated both in the promoter and structural ...
Uso de la técnica SSCP para detectar mutaciones puntuales del ADN mitocondrial humano
(Revista Peruana de Biología, 2005)
Acceso abierto
Evalúa la técnica de SSCP (polimorfismo de conformación de cadena
individual de ADN) para detectar mutaciones puntuales, tanto por su sensibilidad en la detección
(alrededor 80% en condiciones ideales), como por su ...
Variabilidad genética de la respuesta inflamatoria. I. Polimorfismo -511 C/T en el gen IL1β en diferentes subpoblaciones peruanas
(Anales de la Facultad de Medicina, 2012)
Acceso abierto
El polimorfismo -511 citosina/timina (-511 C/T) en la región promotora del gen interleuquina 1 beta (IL1β) está implicado en la
producción diferencial de la citoquina y por tanto puede estar asociado a la respuesta ...
Geographic Population Structure Analysis of Worldwide Human Populations Infers their Biogeographical Origins
(Nature Communications, 2014-04-29)
Acceso abierto
The search for a method that utilizes biological information to predict humans’ place of origin has
occupied scientists for millennia. Over the past four decades, scientists have employed genetic
data in an effort to ...
The Genetic History of Indigenous Populations of the Peruvian and Bolivian Altiplano: The Legacy of the Uros
(PLOS ONE, 2013-09)
Acceso abierto
The Altiplano region of the South American Andes is marked by an inhospitable climate to which the autochthonous
human populations adapted and then developed great ancient civilizations, such as the Tiwanaku culture and ...
Divergencia genética en poblaciones peruanas detectada a partir de las frecuencias haplotípicas del mtDNA y del gen nuclear MBL
(Anales de la Facultad de Medicina, 2011)
Acceso abierto
OBJETIVOS: Avanzar en el conocimiento del origen de las poblaciones peruanas estudiadas en un contexto filogeográfico. Diseño:
Estudio genético poblacional. Instituciones: Laboratorio de Genética Humana, Facultad de ...
Extreme High Prevalence of a Defective Mannose-Binding Lectin (MBL2 ) Genotype in Native South American West Andean Populations
(PLOS ONE, 2014)
Acceso abierto
Mannose-binding lectin (MBL) is one of the five recognition molecules in the lectin complement pathway. Common variant
alleles in the promoter and structural regions of the human MBL gene (MBL2) influence the stability ...
Three Novel Polymorphic Microsatellite Markers for the Glaucoma Locus GLC1B by Datamining Tetranucleotide Repeats on Chromosome 2p12-q12
(Genetics and Molecular Biology, 2009)
Acceso abierto
In order to identify new markers around the glaucoma locus GLC1B as a tool to refine its critical region at
2p11.2-2q11.2, we searched the critical region sequence obtained from the UCSC database for tetranucleotide
(GATA)n ...
Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population
(Molecular Vision, 2012)
Acceso abierto
Purpose: The aim of this study was to characterize a representative sample of the Peruvian population suffering openangle
glaucoma (OAG) with respect to the myocilin gene (MYOC) mutations, glaucoma phenotype, and ancestry ...