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| Analysis of thalassemia gene mutation types in Wenzhou |
| XU Qiyu, ZHOU Wu, QIAN Jingjing, ZHOU Cui. |
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XU Qiyu,ZHOU Wu,QIAN Jingjing, et al. Analysis of thalassemia gene mutation types in Wenzhou[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2017, 47(11): 840-843.
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Abstract Objective: To investigate the gene mutation type and constituent ratio of thalassemia, so as to provide prenatal and postnatal care. Methods: Nine hundred and ninety one suspected thalassemia patients from the First Affiliated Hospital of Wenzhou Medical University and the Second Affiliated Hospital of Wenzhou Medical University were included. GAP-PCR method and reverse dot blot (RDB) method were adopted to detect 3 common gene deletions in α-gene mutation and 3 point mutation in α-gene mutation, 17 common mutation sites in β-gene mutation. Results: From 991 suspected thalassemia patients, 431 thalassemia cases were detected (43.49%), including 155 α-thalassemia mutations and 276 β-thalassemia mutations. Southeast Asia deletion--SEA/αα (accounted for 67.10%) was the major types of α-thalassemia mutations. For β-thalassemia patients, the hot spots of mutation was CD41-42 (accounted for 35.87%). α-thalassemia combined with β-thalassemia were detected in 7 patients. Conclusion: α and β-thalassemia in populations of Wenzhou are complex. In order to provide valuable information with genetic counseling and clinical therapy, it is important to strengthen genetic diagnosis.
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Received: 19 September 2016
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[1] 郭华, 蓝慧娟. 珠蛋白生成障碍性贫血基因检测技术的研究进展[J]. 国际检验医学杂志, 2011, 32(10): 1090-1092.
[2] HIGGS D R, ENGEL J D, STAMATOYANNOPOULOS G. Thalassaemia[J]. Lancet, 2012, 379(9813): 373-383.
[3] 何建维, 黄恒柳, 张燕, 等. 重庆地区地中海贫血基因突变类型分析[J]. 国际检验医学杂志, 2014, (18): 2488-2489.
[4] 甘勇, 杨卓, 陈倩, 等. 北京地区α和β地中海贫血患者基因突变谱分析[J]. 中国卫生检验杂志, 2014, 24(12): 1750-1753.
[5] 陈熙, 肖克林, 罗茗月, 等. 地中海贫血实验室筛查指标评价[J]. 分子诊断与治疗杂志, 2016, 8(4): 242-245, 288.
[6] 蔡永林, 郑裕明, 汤敏中, 等. β-地中海贫血复合缺失型α-地中海贫血双重杂合子的分子检测及血液学分析[J]. 中国实验血液学杂志, 2007, 15(1): 195-197.
[7] PHYLIPSEN M, VOGELAAR I P, SCHAAP R A, et al.
A new alpha(o)-thalassemia deletion found in a Dutch family (--(AW))[J]. Blood Cells Mol Dis, 2010, 45(2): 133-135.
[8] 王燕燕, 李晓辉, 徐西华. 地中海贫血诊治进展与我国现状[J]. 中国实用儿科杂志, 2013, 28(6): 473-476. |
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