Diagnosis of haemoglobinopathies : New scientific advances

IF 0.6 Q4 HEMATOLOGY
C. Harteveld
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引用次数: 1

Abstract

The molecular defects underlying haemoglobinopathies are both deletions and point mutations in the alpha- or beta-globin genes or gene-clusters. To detect point mutations causing alpha- or beta-thalassaemia, direct sequencing is the method of choice to detect the widest spectrum of molecular defects. The most established approach in DNA diagnostics to screen for the most common deletion defects causing alpha-thalassaemia or beta-thalassaemia is gap- PCR, Multiplex Ligation-dependent Probe Amplification (MLPA) and Sanger Sequencing technology to detect breakpoint sequences of previously uncharacterized deletions/duplications. We demonstrate the recent advances in the determination of duplications and deletions causing alpha- or beta-thalassemia, using Next Generation Sequencing, array Comparative Genome Hybridization and Target Locus Amplification. We present three cases in which the use of advanced technologies allow the diagnosis of unexpected disease genotypes.
血红蛋白病的诊断:新的科学进展
血红蛋白病的分子缺陷是α -或β -珠蛋白基因或基因簇的缺失和点突变。为了检测引起α -或β -地中海贫血的点突变,直接测序是检测最广泛的分子缺陷的方法。在DNA诊断中,筛选导致α -地中海贫血或β -地中海贫血的最常见缺失缺陷的最成熟方法是gap- PCR、多重连接依赖探针扩增(Multiplex lig- dependent Probe Amplification, MLPA)和Sanger测序技术,以检测先前未表征的缺失/重复的断点序列。我们展示了使用下一代测序、阵列比较基因组杂交和靶基因座扩增来确定导致α -或β -地中海贫血的重复和缺失的最新进展。我们提出了三个案例,其中使用先进技术可以诊断出意想不到的疾病基因型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Thalassemia Reports
Thalassemia Reports HEMATOLOGY-
自引率
0.00%
发文量
17
审稿时长
10 weeks
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