Coexistence of Two β-Globin Gene Deletions in a Chinese Girl with β-Thalassemia Minor

Huang, Ge; Li, Ping; Li, Yun-xiong; Ye, Lian-Zhen

doi:10.3109/03630269.2013.853673

Cited by 1 publication

(1 citation statement)

References 7 publications

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“…There are different detection methods for different diseases. SNVs are usually detected by Sanger sequencing, Southern blotting (32), PCR-RDB (33,34) or matrix-assisted laser desorption ionization time-of-flight mass spectrometry (35). Partial CNVs, including deletions and duplications, are often detected by qPCR (36), array comparative genomic hybridization (37) and massively parallel DNA sequencing (38).…”

Section: Cnv Detection By Ngsmentioning

confidence: 99%

Simultaneous detection of target CNVs and SNVs of thalassemia by multiplex PCR and next‑generation sequencing

et al. 2019

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Thalassemia is caused by complex mechanisms, including copy number variants (CNVs) and single nucleotide variants (SNVs). The CNV types of α-thalassemia are typically detected by gap-polymerase chain reaction (PCR). The SNV types are detected by Sanger sequencing. In the present study, a novel method was developed that simultaneously detects CNVs and SNVs by multiplex PCR and next-generation sequencing (NGS). To detect CNVs, 33 normal samples were used as a cluster of control values to build a baseline, and the A, B, C, and D ratios were developed to evaluate-SEA , -α 4.2 , -α 3.7 , and compound or homozygous CNVs, respectively. To detect other SNVs, sequencing data were analyzed using the system's software and annotated using Annovar software. In a test of performance, 128 patients with thalassemia were detected using the method developed and were confirmed by Sanger sequencing and gap-PCR. Four different CNV types were clearly distinguished by the developed algorithm, with -SEA , -α 3.7 , -α 4.2 , and compound or homozygous deletions. The sensitivities for each CNV type were 96.72% (59/61), 97.37% (37/38), 83.33% (10/12) and 95% (19/20), and the specificities were 93.94% (32/33), 93.94% (32/33), 100% (33/33) and 100% (33/33), respectively. The SNVs detected were consistent with those of the Sanger sequencing.

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