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歷 年 稿 件 內 容
 
*類別：
* 姓名： 王玫君
投稿種類： 壁報
*中文投稿標題： 台灣高雄榮民總醫院發現世界首例新變異型血色素（命名為：高雄榮民總醫院血色素）
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* 投稿摘要： Previously we examined 80 diabetic patients with abnormal Hb chromatogram, followed by capillary electrophoresis and DNA sequencing analysis, and found one case with novel hemoglobin variant. In reviewing the SNP database, we confirmed this is a new identified InDel. We named this novel Hb variant “Hemoglobin-Kaohsiung Veterans General Hospital (Hb-KSVGH)”. The Hb-KSVGH chromatogram demonstrated two additional peaks with longer retention times. The peaks were located after HbA, and the percentages of each Hb component, namely, HbA0, HbA1c, HbX1, and HbX2, were 92.1%, 5.2%, 12.3%, and 0.5%, respectively. Furthermore, the electrophoresis results demonstrated an additional peak located between HbA and HbA_2. The obtained percentages for each Hb component, namely, HbA, HbA2, HbF, and HbX(E), were 87.9%, 2.0%, 0.3%, and 9.3%, respectively. The genomic DNA sequencing analysis showed that there was no genetic alteration on the α2- and β-gene. However, a noise signal was identified at 172 bp of the HBA1 gene , which indicated the possible occurrence of an insertion/deletion (InDel) event. Consequently, T-A cloning was performed on the PCR product and the results showed that the patient was heterozygous for Hb variants. Within an allele, a sequence that was 24 bp long was inserted at 171 bp, which resulted in an insertion of an additional 8 amino acid sequence between the 56th and 57th amino acid of α-1 hemoglobin. (This work was supported by Kaohsiung Veterans General Hospital Research grant VGHKS100-039)
*關鍵字1 ： Hemoglobin-Kaohsiung Veterans General Hospital
*關鍵字2 ： Hb-KSVGH
*關鍵字3 ： HBA1C
*關鍵字4 ： Hb variant
*關鍵字5 ： DM
* 服務機關：
* 第一作者： 王玫君
* 身分字號： *****26019
其他投稿作者： 林興中
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其他投稿作者： 蔡國旺
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其他投稿作者： 朱志勳
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