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首页> 外文期刊>European Journal of Haematology >Detection of alpha(0)-thalassemia South-East Asian-type deletion by droplet digital PCR
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Detection of alpha(0)-thalassemia South-East Asian-type deletion by droplet digital PCR

机译：液滴数字PCR检测α（0）地中海贫血东南亚型缺失

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Background: The α(0)-thalassemia South-East Asian (SEA)-type deletion is the most common genetic disorder in the Asian population. Couples who are both carriers have a 25% chance of conceiving Bart's hydrops fetalis. Therefore, results from carrier screening and prenatal diagnosis frequently need to be available rapidly. The aim of this study was to implement a droplet digital polymerase chain reaction (ddPCR) for diagnosis of α(0)-thalassemia SEA-type deletion. Methods: The wild-type α-globin gene allele and α(0)-thalassemia SEA allele were quantified in DNA samples of 20 normal individuals, 15 samples with α(0)-thalassemia SEA trait, and 8 samples with Bart's hydrops fetalis using the ddPCR. The DNA copy number of wild-type α-globin gene allele and α(0)-thalassemia SEA allele was then calculated using the Quantasoft analysis software. Results: The mean ± standard deviation (SD) ratio of wild-type α-globin gene allele and α(0)-thalassemia SEA allele among normal individuals, samples with α(0)-thalassemia SEA trait, and Bart's hydrops fetalis were clearly distinguished with levels of 1.78 ± 0.49, 0.85 ± 0.14, and 0.03 ± 0.03, respectively. Conclusion: The ddPCR may be one alternative technology available for routine clinical diagnosis of α(0)-thalassemia SEA-type deletion and prenatal diagnosis of Bart's hydrops fetalis.
机译：背景：α（0）地中海贫血东南亚（SEA）型缺失是亚洲人群中最常见的遗传疾病。夫妻俩都是携带者，有25％的机会孕育Bart的胎儿水肿。因此，经常需要迅速获得携带者筛查和产前诊断的结果。这项研究的目的是实施液滴数字聚合酶链反应（ddPCR）诊断α（0）地中海贫血SEA型缺失。方法：使用20个正常个体，15个具有α（0）-地中海贫血SEA特质的样本和8个具有胎儿巴特积液的样本对野生型α-球蛋白基因等位基因和α（0）-地中海贫血SEA等位基因进行定量。 ddPCR。然后使用Quantasoft分析软件计算野生型α-球蛋白基因等位基因和α（0）-地中海贫血SEA等位基因的DNA拷贝数。结果：正常个体，具有α（0）-地中海贫血SEA特征的样本和Bart胎儿水肿中的野生型α-球蛋白基因等位基因和α（0）-地中海贫血SEA等位基因的平均值±标准差（SD）清楚分别以1.78±0.49、0.85±0.14和0.03±0.03的水平区分。结论：ddPCR可能是α（0）-地中海贫血SEA型缺失的常规临床诊断和胎儿Bart积水的产前诊断的另一种可用技术。

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