RESUMO
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.
Assuntos
Humanos , Negro ou Afro-Americano/genética , Alelos , Aminoácidos/metabolismo , Povo Asiático/genética , Di-Hidrouracila Desidrogenase (NADP)/genética , Etnicidade/genética , População Branca/genética , Fluoruracila/metabolismo , Frequência do Gene , Genótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
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.
Assuntos
Humanos , Negro ou Afro-Americano/genética , Alelos , Aminoácidos/metabolismo , Povo Asiático/genética , Di-Hidrouracila Desidrogenase (NADP)/genética , Etnicidade/genética , População Branca/genética , Fluoruracila/metabolismo , Frequência do Gene , Genótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
A female patient with mucocutaneous lymph node syndrome is presented. During the course of her illness, she developed acute abdominal pain secondary to hydrops of gallbladder. The diagnosis was facilltated by ultrasound. We managed her conventionally without surgical intervention. It is interesting that the age of patients complicated by gallbladder hydrops is high compared with the age frequency of MCLS. Related literatures are briefly reviewed.