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篇名 |
使用自動化儀器Trinity Biotech Ultra II 和Sebia MINICAP 偵測高度不穩定血紅素蛋白:Hb Madrid
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並列篇名 |
Use of Automated Trinity Biotech Ultra II and Sebia MINICAP to Detect a Severely Unstable Hemoglobin Variant: Hb Mardrid |
作者 |
曾淑真、周文堅、許富強、張志新、許呈安、林亮音 |
中文摘要 |
我們利用DNA定序確定了一個台灣人β-globin gene codon 115 GCC-CCC(Ala> Pro)的突變。此變異血色素名為Hb Madrid,該β-chain突變造成了血紅素的嚴重不穩定。大多數高不穩定性血紅素蛋白(Hyperunstable hemoglobin variants;HUH)幾乎都無形成穩定的蛋白質,無法使用偵測蛋白質平台測出,包括質譜儀。此血紅素的變異無法使用Bio-RAD D10 HPLC平台檢測,但確可以透過陽離子交換HPLC(Trinity Biotech Ultra II)和Sebia Minicap發現。此β-globin gene在heterozygotes突變情況下呈現顯性β-海洋性貧血,存在嚴重的溶血性貧血、reticulocyte增多、在骨髓具有明顯的紅血球細胞增生、脾腫大,並且Hb F顯著增加。
We have identified through sequencing of amplified DNA a GCC-CCC(Ala>Pro), mutation incodon 115 of the β-globin gene in Taiwanese. It is called Hb Mardrid, is a Hyperunstablehemoglobin variants (HUH). Most Hyperunstable hemoglobin variants (HUH) result frommutations that are transcribed and translated but have a defect so severe that they do not form aprotein that is detectable by any method, including mass spectrometry and stability studies. Thisβ-chain is severely unstable and could not be identified as hemoglobin variant by high performanceliquid chromatography (Bio-RAD D10) methods. But It could be identified by Cation-ExchangeHPLC (Trinity Biotech Ultra II) and Sebia Minicap. It is presence results in a dominant type ofβ-thalassemia in the two heterozygotes, with severe hemolytic anemia, reticulocytosis, hypercellularmarrow with prominent erythroid hyperplasia, splenomegaly, and had a marked increase in fetalhemoglobin synthesis. |
英文摘要 |
We have identified through sequencing of amplified DNA a GCC-CCC(Ala>Pro), mutation incodon 115 of the β-globin gene in Taiwanese. It is called Hb Mardrid, is a Hyperunstablehemoglobin variants (HUH). Most Hyperunstable hemoglobin variants (HUH) result frommutations that are transcribed and translated but have a defect so severe that they do not form aprotein that is detectable by any method, including mass spectrometry and stability studies. Thisβ-chain is severely unstable and could not be identified as hemoglobin variant by high performanceliquid chromatography (Bio-RAD D10) methods. But It could be identified by Cation-ExchangeHPLC (Trinity Biotech Ultra II) and Sebia Minicap. It is presence results in a dominant type ofβ-thalassemia in the two heterozygotes, with severe hemolytic anemia, reticulocytosis, hypercellularmarrow with prominent erythroid hyperplasia, splenomegaly, and had a marked increase in fetalhemoglobin synthesis. |
起訖頁 |
38-44 |
關鍵詞 |
Hb Madrid、HUH、顯性β-海洋性貧血、Hb Mardrid、HUH、dominant type of β-thalassemia |
刊名 |
生物醫學暨檢驗科學雜誌 |
期數 |
201806 (30:2期) |
出版單位 |
台灣醫事檢驗學會
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