检测三种常见α地中海贫血缺失的定量多重聚合酶链式反应的开发。

IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Hemoglobin Pub Date : 2023-11-01 Epub Date: 2023-11-03 DOI:10.1080/03630269.2023.2260744
Zahra Hajimohammadi, Sara Alimohammadi-Bidhendi, Fahimeh Bagheri Amiri, Morteza Karimipoor, Elham Davoudi-Dehaghani, Mona Entezam
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引用次数: 0

摘要

α地中海贫血是一种常染色体隐性遗传病,在中东地区发病率很高。严重的α地中海贫血与生活不相容,可能会导致母亲出现严重的产科并发症。因此,确定有机会生下患有这种严重疾病的胎儿的父母的基因型是很重要的。本研究共使用了112个先前在伊朗分析过的常见α地中海贫血突变样本。设计了一种新的多重PCR,包括扩增α-珠蛋白基因簇同源区的定量聚合酶链式反应和荧光间隙PCR,以鉴定-α3.7、-α4.2和-MED缺失。ROC曲线用于确定最佳截止点。统计分析表明,不同基因型的峰高比存在显著差异。297对应的峰值 在所有具有该缺失的样品中检测到由具有MED-I缺失的等位基因扩增产生的bp片段。ROC曲线确定了一系列敏感性和特异性的不同临界值。所提出的方法可以识别α-珠蛋白基因簇中三种常见的大缺失。更大样本量的研究可以提供关于该测试的敏感性和特异性的更准确信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Development of a Quantitative Multiplex PCR to Detect Three Common Alpha Thalassemia Deletions.

Alpha thalassemia is an autosomal recessive genetic disorder with a high prevalence in the Middle East. The severe form of alpha-thalassemia is incompatible with life and can cause significant obstetric complications in the mother. Therefore, it is important to determine the genotype in parents who have a chance of having a fetus with one of the severe forms of this disease. A total of 112 samples that were previously analyzed for common alpha thalassemia mutations in Iran were used in this study. A new multiplex PCR including quantitative polymerase chain reaction to amplify the homologous regions of the alpha-globin gene cluster and fluorescent gap PCR was designed to identify -α3.7, -α4.2, --MED deletions. The ROC curve was used to determine the optimum cutoff points. Statistical analysis showed that there is a significant difference between the peak height ratios for different genotypes. The peak corresponding to the 297 bp fragment resulting from the amplification of the allele with MED-I deletion was detected in all the samples with this deletion. Different cutoffs for a range of sensitivities and specificities were determined by the ROC curve. The suggested method can identify three common large deletions in the alpha-globin gene cluster. A study with a larger sample size can provide more accurate information about the sensitivity and specificity of this test.

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来源期刊
Hemoglobin
Hemoglobin 医学-生化与分子生物学
CiteScore
1.70
自引率
10.00%
发文量
59
审稿时长
3 months
期刊介绍: Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders
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