Rapid detection of G6PD mutations by multicolor melting curve analysis

The MeltPro G6PD assay is the first commercial genetic test for glucose-6-phosphate dehydrogenase (G6PD) deficiency. This multicolor melting curve analysis-based real-time PCR assay is designed to genotype 16 G6PD mutations prevalent in the Chinese population. We comprehensively evaluated both the a...

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Veröffentlicht in:	Molecular genetics and metabolism 2016-09, Vol.119 (1-2), p.168-173
Hauptverfasser:	Xia, Zhongmin, Chen, Ping, Tang, Ning, Yan, Tizhen, Zhou, Yuqiu, Xiao, Qizhi, Huang, Qiuying, Li, Qingge
Format:	Artikel
Sprache:	eng
Schlagworte:	Female Genetic Testing Genotype Glucose-6-phosphate dehydrogenase deficiency Glucosephosphate Dehydrogenase - blood Glucosephosphate Dehydrogenase - genetics Glucosephosphate Dehydrogenase Deficiency - diagnosis Glucosephosphate Dehydrogenase Deficiency - genetics Glucosephosphate Dehydrogenase Deficiency - pathology Humans Male Multicolor melting curve analysis Mutation Newborn screening Nucleic Acid Denaturation - genetics Real-time PCR Sequence Analysis, DNA
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Beschreibung
Zusammenfassung:	The MeltPro G6PD assay is the first commercial genetic test for glucose-6-phosphate dehydrogenase (G6PD) deficiency. This multicolor melting curve analysis-based real-time PCR assay is designed to genotype 16 G6PD mutations prevalent in the Chinese population. We comprehensively evaluated both the analytical and clinical performances of this assay. All 16 mutations were accurately genotyped, and the standard deviation of the measured Tm was
ISSN:	1096-7192 1096-7206
DOI:	10.1016/j.ymgme.2016.07.006