https://scholars.lib.ntu.edu.tw/handle/123456789/464859
標題: | Denaturing high-performance liquid chromatography: An efficient screening approach in the genetic diagnosis of hemoglobin Hammersmith | 作者: | Hung C.-C. Chien S.-C. Su Y.-N. Chern J.P.S. KAI-HSIN LIN Win-Li Lin |
公開日期: | 2006 | 卷: | 18 | 期: | 6 | 起(迄)頁: | 343-347 | 來源出版物: | Biomedical Engineering - Applications, Basis and Communications | 摘要: | In this study we here present the first report of the detection of the rare beta-thalassemia mutation in the Taiwanese population: Hemoglobin Hammersmith (Hb Hammersmith). The mutation was detected by denaturing high-performance liquid chromatography (DHPLC) screening followed by automated direct sequencing. The mutation was found in an affected woman and her immature female fetus in the heterozygous state. Molecular abnormality of Hb Hammersmith results from an abnormal beta chain with an amino acid substitution (condon 42, TTT→TCT, Phe→Ser) in the beta-globin (HBB) gene with the clinical presentation of hemolytic anemia. Given known wide spectrum of beta-thalassemia alleles in the Taiwanese population, the present report further confirmed the high heterogeneity rate. This result indicated that the importance of the efficient screening approach by DHPLC for genetic diagnosis in beta-thalassemia. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/464859 | ISSN: | 1016-2372 | DOI: | 10.4015/S1016237206000506 | SDG/關鍵字: | Amino acids; Diseases; Genetic engineering; Hemoglobin; Patient treatment; Alleles; Beta thalassemia mutation; Denaturing high performance liquid chromatography (DHPLC); Liquid chromatography; hemoglobin; hemoglobin hammersmith; unclassified drug; allele; amino acid substitution; article; beta thalassemia; controlled study; denaturing high performance liquid chromatography; gene mutation; gene sequence; genetic screening; hemolytic anemia; human; Taiwan |
顯示於: | 醫學工程學研究所 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。