A Simple Allele-Specific Polymerase Chain Reaction Method to Detect the Gly143Glu Polymorphism in the Human Carboxylesterase 1 Gene: Importance of Genotyping for Pharmacogenetic Treatment

التفاصيل البيبلوغرافية
العنوان: A Simple Allele-Specific Polymerase Chain Reaction Method to Detect the Gly143Glu Polymorphism in the Human Carboxylesterase 1 Gene: Importance of Genotyping for Pharmacogenetic Treatment
المؤلفون: María Ana Pasquali, Dante M. Beltramo, Cecilia del Carmen Montes, Néstor W. Soria, Cristian A. Galván, Andrea Belaus, Pablo Vélez
المصدر: Genetic Testing and Molecular Biomarkers. 14:749-751
بيانات النشر: Mary Ann Liebert Inc, 2010.
سنة النشر: 2010
مصطلحات موضوعية: Adult, Male, Oseltamivir, Adolescent, Carboxylesterase 1, Glycine, Glutamic Acid, Biology, Antiviral Agents, Polymerase Chain Reaction, law.invention, Young Adult, chemistry.chemical_compound, Gene Frequency, law, Influenza, Human, Humans, Gene, Genotyping, Alleles, Genetics (clinical), Polymerase chain reaction, Aged, Aged, 80 and over, chemistry.chemical_classification, Genetics, Polymorphism, Genetic, Heterozygote advantage, General Medicine, Middle Aged, Molecular biology, Enzyme, Amino Acid Substitution, chemistry, Attention Deficit Disorder with Hyperactivity, Inactivation, Metabolic, Methylphenidate, Central Nervous System Stimulants, Female, Carboxylic Ester Hydrolases, Pharmacogenetics
الوصف: Human carboxylesterases 1 and 2 (CES1 and CES2) catalyze the hydrolysis of many exogenous compounds. Alterations in CES sequences could lead to variability in both the inactivation of drugs and the activation of prodrugs. The human CES1 gene encodes for the enzyme carboxylesterase 1, a serine esterase governing both metabolic deactivation and activation of numerous therapeutic agents. Some of theses drugs are the antiviral oseltamivir used to treat some types of influenza infections and the methylphenidate employed in the treatment of patients with attention deficit. The Gly143Glu polymorphism in CES1 gene has been shown to reduce enzyme activity. The aim of the present study was to develop an easy and cheap method to detect this polymorphism. For this, we studied a group of people from Córdoba, a Mediterranean area from Argentina. Our results show that our methodology could detect the presence of this polymorphism with a frequency around 1.8%, only in the heterozygote form. These results could be relevant to patients before the treatment with some drugs where the CES1 enzyme is involved.
تدمد: 1945-0257
1945-0265
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3952d69e57756d9403a560b5740ec308Test
https://doi.org/10.1089/gtmb.2010.0037Test
حقوق: CLOSED
رقم الانضمام: edsair.doi.dedup.....3952d69e57756d9403a560b5740ec308
قاعدة البيانات: OpenAIRE