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Screening of Dihydropyrimidine Dehydrogenase Genetic Variants by Direct Sequencing in Different Ethnic Groups
Journal of Korean Medical Science ; : 1129-1133, 2013.
Artículo en Inglés | WPRIM | ID: wpr-135449
ABSTRACT
Dihydropyrimidine dehydrogenase (DPYD) is an enzyme that regulates the rate-limiting step in pyrimidine metabolism, especially catabolism of fluorouracil, a chemotherapeutic agent for cancer. In order to determine the genetic distribution of DPYD, we directly sequenced 288 subjects from five ethnic groups (96 Koreans, 48 Japanese, 48 Han Chinese, 48 African Americans, and 48 European Americans). As a result, 56 polymorphisms were observed, including 6 core polymorphisms and 18 novel polymorphisms. Allele frequencies were nearly the same across the Asian populations, Korean, Han Chinese and Japanese, whereas several SNPs showed different genetic distributions between Asians and other ethnic populations (African American and European American). Additional in silico analysis was performed to predict the function of novel SNPs. One nonsynonymous SNP (+199381A > G, Asn151Asp) was predicted to change its polarity of amino acid (Asn, neutral to Asp, negative). These findings would be valuable for further research, including pharmacogenetic and drug responses studies.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Negro o Afroamericano / Etnicidad / Análisis de Secuencia de ADN / Polimorfismo de Nucleótido Simple / Dihidrouracilo Deshidrogenasa (NADP) / Pueblo Asiatico / Población Blanca / Alelos / Fluorouracilo / Frecuencia de los Genes Tipo de estudio: Estudio diagnóstico / Estudio pronóstico / Estudio de tamizaje Límite: Humanos Idioma: Inglés Revista: Journal of Korean Medical Science Año: 2013 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Negro o Afroamericano / Etnicidad / Análisis de Secuencia de ADN / Polimorfismo de Nucleótido Simple / Dihidrouracilo Deshidrogenasa (NADP) / Pueblo Asiatico / Población Blanca / Alelos / Fluorouracilo / Frecuencia de los Genes Tipo de estudio: Estudio diagnóstico / Estudio pronóstico / Estudio de tamizaje Límite: Humanos Idioma: Inglés Revista: Journal of Korean Medical Science Año: 2013 Tipo del documento: Artículo