分类号：R714.55
出版年·卷·期（页码）：2015·7·第4期（16-23）
DOI:
10.13470/j.cnki.cjpd.2015.04.005
-----摘要：-------------------------------------------------------------------------------------------
目的 地中海贫血是由于α/β-珠蛋白基因突变或缺失导致的α/β链生成不足或完全缺如引起的以珠蛋白生成障碍为特点的遗传性血液病。本研究旨在研发一个针对中国南方人群高发位点的地贫检测平台，并了解广东省各地区地贫基因流行性情况。方法 基于悬浮阵列技术开发一个能同时检测中国南方人群高发的20种地中海贫血点突变及3种缺失突变的平台，利用200多例已知地贫基因型的样本评估引物和探针的性能，以及确定给突变位点检测探针的截断值。并将此方法用于广东省地贫防控项目中的81052例标本，以分析广东省各地区地贫流行性现况。结果 本平台使用的微球反应面积大及探针数量多，加快了检测速度，可同时检测20种突变型地贫基因与3种缺失型地贫基因。广东省地贫防控项目中的81052例标本中，共检出12296 (15.20%)例携带地贫基因，其中8975 (11.07%)例携带α地贫基因，2857 (3.52%)例携带β地贫基因，464 (0.57%)例携带α地贫基因及β地贫基因。结论 悬浮阵列技术是一种快速，准确，经济的技术，尤其适用于大规模地贫基因诊断。
-----英文摘要：---------------------------------------------------------------------------------------
Objective Thalassemia is a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. The aim of this study was to develop an effective diagnostic platform for thalassemia targeting the hotspot mutation sites and deletion combinations, as well as to reveal the prevalence and molecular variation of α/β-globin gene mutations in Guangdong Province. Method We developed a new diagnostic assay using the bead-based suspension array technology (BBSAT), which can detect 20 point mutations and 3 deletions of Asian prevalent thalassemia in parallel within 5 hours. More than 200 previously genotyped clinical samples were used to determine the cut-off values and to validate the accuracy of new assay. Moreover, the new assay was applied to screen thalassemia in 40,813 clinical samples to investigate the prevalence and mutation spectrum of thalassemia in the population of Guangdong Province, China. Results In the BBSAT assay, suspended beads increase surface area to 3-D and more probes concentrated on beads. With the multiplex PCR primer and probe design strategy, both deletion mutations and point mutations of α/β thalassemia can be simultaneously detected in a single assay. Among 81,052 clinical samples, 12,296 samples carry thalassemia gene mutations, of which 8,975 samples (11.07%) carry α-thalassemia gene mutations, 2,857 samples (3.52%) carry β-thalassemia gene mutations, and 464 samples (0.57%) carry both α- and β-thalassemia gene mutations. Conclusions The BBSAT is a rapid, accurate and cost-effective technology, suitable for molecular diagnosis of the thalassemia in large populations.
-----参考文献：---------------------------------------------------------------------------------------
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王逾男,林建昌,张亮,何天文,刘畅,杜丽,尹爱华.悬浮阵列技术在地中海贫血基因诊断中的应用.中国产前诊断杂志,2015,7(4):16-23.
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