https://scholars.lib.ntu.edu.tw/handle/123456789/196855
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor | 婦產科 | en |
dc.contributor.author | KO, TSANG-MING | en |
dc.contributor.author | TSENG, LI-HUI | en |
dc.contributor.author | HSU, PI-MEI | en |
dc.contributor.author | LI, SHU -FUNG | en |
dc.contributor.author | CHUANG, SOU-MING | en |
dc.creator | 柯滄銘;曾麗慧;徐碧梅;黎淑芳;莊壽洺 | zh-tw |
dc.creator | KO, TSANG-MING;TSENG, LI-HUI;HSU, PI-MEI;LI, SHU -FUNG;CHUANG, SOU-MING | en |
dc.date | 1997 | en |
dc.date.accessioned | 2008-12-24T08:15:49Z | - |
dc.date.accessioned | 2018-07-12T00:37:14Z | - |
dc.date.available | 2008-12-24T08:15:49Z | - |
dc.date.available | 2018-07-12T00:37:14Z | - |
dc.date.issued | 1997 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/93844 | - |
dc.description.abstract | Polymerase chain reaction-based techniques were used to study the molecular defects of 480 unrelated beta- thalassemia heterozygotes in Taiwan. Analysis of artificially created restriction sites and gap- polymerase chain reaction were performed to detect four common mutations, i.e. IVS-II-654 (C --> T), codons 41/42 (-TCTT), codon 17 (A --> T), -28 ( A --> G), and a deletional form of delta beta-thalassemia in the Chinese population. In cases with negative or ambiguous results with the aforementioned methods, direct DNA cycle sequencing using either S-35-dATP or a fluorescent dye terminator, was carried out to determine the defects . A total of 14 different mutations have been found in this series. The IVS-II-654 mutation was the most common (39.6%), followed by the codons 41 /42 mutation (37.9%). The four common genotypes accounted for 92 .3% of defects. Two new mutations were detected: codon 31 (- C) and codons 40/41 (+T). Both defects resulted in a frameshift and a premature terminator, the former at codon 60, the latter at codon 43. Although we have studied our cases extensively, the molecular defects in seven alleles are still unknown. | en |
dc.language | en-us | en |
dc.language.iso | en_US | - |
dc.relation | HEMOGLOBIN v.21 n.1 pp.131-142 | en |
dc.relation.ispartof | HEMOGLOBIN | - |
dc.title | Molecular Characterization of Beta-Thalassemia in Taiwan and the Identification of Two New Mutations | en |
dc.relation.pages | 131-142 | - |
dc.relation.journalvolume | v.21 | - |
dc.relation.journalissue | n.1 | - |
item.languageiso639-1 | en_US | - |
item.grantfulltext | none | - |
item.fulltext | no fulltext | - |
顯示於: | 醫學系 |
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