We evaluate the use of SSCP (single strand conformational polymorphism), a relatively easy and inexpensive technique for the detection of point mutations with a sensibility around 80% under ideal conditions. To test the technique, we used samples of volunteers whose DNA had been previously characterized for the presence or absence of 5 mitochondrial RFLPs. Optimization of the tests included variations in TBE (1X and 0,5X) and of glycerol concentration (10%, 5% and no glycerol) in polyacrylamide gels. Four out of five RFLPs were detected under the conditions used and could be applied routinely without using restriction enzymes. In addition, the SSCP technique allowed detection of unknown mutations in a 394 bp nucleotide segment of the hypervariable (HVI) region of mtDNA. Differences corresponding to different haplotypes were detected, helping to distinguish groups within the same subtype....

We evaluate the use of SSCP (single strand conformational polymorphism), a relatively easy and inexpensive technique for the detection of point mutations with a sensibility around 80% under ideal conditions. To test the technique, we used samples of volunteers whose DNA had been previously characterized for the presence or absence of 5 mitochondrial RFLPs. Optimization of the tests included variations in TBE (1X and 0,5X) and of glycerol concentration (10%, 5% and no glycerol) in polyacrylamide gels. Four out of five RFLPs were detected under the conditions used and could be applied routinely without using restriction enzymes. In addition, the SSCP technique allowed detection of unknown mutations in a 394 bp nucleotide segment of the hypervariable (HVI) region of mtDNA. Differences corresponding to different haplotypes were detected, helping to distinguish groups within the same subtype....

Introducción: La warfarina es un anticoagulante cuya eficacia depende de alcanzar y mantener un INR (International Normalised Ratio) en rangos terapéutico. Hasta el 60% de variabilidad dosis-respuesta interindividual puede ser explicada por fármacogenes, al respecto no existen estudios en el Perú. Se estudio el efecto del gen CYP4F2 en la dosis de warfarina en pacientes peruanos. Material y Métodos: Se realizó un estudio observacional descriptivo y ambispectivo, con pacientes atendidos en el Servicio de Hematología del Hospital Grau ESSALUD, Lima Perú, seleccionados por muestreo no probabilístico por conveniencia. Los criterios inclusión fueron pacientes anticoagulados por más de tres meses y con dosis estables de warfarina (misma dosis por al menos tres atenciones en consultorio externo y con un INR en rangos terapéuticos de 2,5-3,5). Se realizó análisis del gen CYP4F2, rs...

Introduction: Warfarin is an anticoagulant whose efficacy depends on reaching and maintaining an INR (International Normalized Ratio) within therapeutic ranges. Up to 60% of interindividual dose-response variability can be explained by pharmacogenes, in this regard there are no studies in Peru. We studied the effect of the CYP4F2 gene on the dose of warfarin in Peruvian patients. Material and Methods: A descriptive and ambispective observational study was carried out with patients seen in the Grau ESSALUD Hospital Hematology Service, Lima, Peru, selected by non-probabilistic convenience sampling. The inclusion criteria were patients anticoagulated for more than three months and with stable doses of warfarin (same dose for at least three outpatient visits and with an INR in therapeutic ranges of 2.5-3.5). Analysis of the CYP4F2 gene was performed by taking a DNA sample from peripheral blo...

Genotoxic evaluation is an important step for a product that is aimed for human consumption. A beverage composed of pseudocereals with highly nutritious elements like quinua (Chenopodium quinoa Willd.), kiwicha (Amaranthus caudatus L.) and kañiwa (Chenopodium pallidicaule Aellen) was prepared to reduce lipid contents in a group of volunteers. The objective of the present study is to evaluate the genotoxic potential of an experimental beverage using two in vitro tests that have been validated by international agencies. For the Ames test, two strains of Salmonella typhimurium (TA98 and TA100) with and without microsomal fraction (S9) were used. Four doses of the beverage were tested and also a possible protective effect (same four doses of beverage added to plates with mutagens). Cultures of binucleated lymphocytes and five doses of the beverage were used for the micronucleus test. Both A...

Genotoxic evaluation is an important step for a product that is aimed for human consumption. A beverage composed of pseudocereals with highly nutritious elements like quinua (Chenopodium quinoa Willd.), kiwicha (Amaranthus caudatus L.) and kañiwa (Chenopodium pallidicaule Aellen) was prepared to reduce lipid contents in a group of volunteers. The objective of the present study is to evaluate the genotoxic potential of an experimental beverage using two in vitro tests that have been validated by international agencies. For the Ames test, two strains of Salmonella typhimurium (TA98 and TA100) with and without microsomal fraction (S9) were used. Four doses of the beverage were tested and also a possible protective effect (same four doses of beverage added to plates with mutagens). Cultures of binucleated lymphocytes and five doses of the beverage were used for the micronucleus test. Both A...

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.