Detection of three common G6PD gene mutations in Chinese individuals by probe melting curves

De-tai, Zhang; Hu, Lihua; Yang, Yuzheng

doi:10.1016/j.clinbiochem.2005.01.001

Cited by 6 publications

(1 citation statement)

References 3 publications

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“…There are a number of reports describing the detection of SNPs or disease‐related mutations using FRET hybridization probes in the LightCycler ® (Roche Applied Science, Indianapolis, IN) or the LightTyper (Roche Applied Science) (7–30) and at least one report using the iCycler (Bio‐Rad Laboratories, Hercules, CA) (31). Most of these assays detect only a single SNP although several duplex assays (15,21), a triplex assay (18), and a 4‐plex (32) are reported.…”

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confidence: 99%

A Real‐Time Multiplex SNP Melting Assay to Discriminate Individuals

Nicklas

Buel

2008

Journal of Forensic Sciences

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A method that quickly and inexpensively differentiates crime scene samples from multiple donors would expedite casework analysis by allowing the selection of probative items requiring comprehensive testing. This new method need not be perfectly definitive nor give a complete 13 locus short tandem repeat (STR) profile; it simply must be able to differentiate between most victim and suspect samples. We describe the development of multiplex, single nucleotide polymorphism (SNP), fluorescence resonance energy transfer-based real-time polymerase chain reaction (PCR) assays to fulfill this need. Dual probes, one fluorescently labeled and the other labeled with a quencher, are monitored during a melt analysis to reveal an increase in fluorescence, which allows the assessment of the two SNP alleles. Two alternate 6-plex assays (with and without gender determination) have been developed for the six-color RG6000 real-time instrument (Corbett Robotics, Inc.) and one seven SNP plus gender assay (performed as two 4-plex assays, one with gender the other without) have been developed for use in four/five color real-time instruments. This technique can discriminate between 95% and 99% of samples from different individuals. This assay is fast (approximately 2 h), much less expensive than STR analysis, and uses a real-time PCR instrument which is found in most forensic and molecular biology labs.

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A Real‐Time Multiplex SNP Melting Assay to Discriminate Individuals

Nicklas

Buel

2008

Journal of Forensic Sciences

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Glucose‐6‐phosphate dehydrogenase laboratory assay: How, when, and why?

Minucci¹,

Giardina²,

Zuppi³

et al. 2008

IUBMB Life

128

122

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SummaryGlucose 6-phosphate dehydrogenase (G6PD) deficiency is the most common defect of red blood cells. Although some different laboratory techniques or methods are employed for the biochemical screening, a strict relationship between biochemists, clinicians, and molecular biologists is necessary for a definitive diagnosis. This article represents an overview on the current laboratory tests finalized to the screening or to the definitive diagnosis of G6PD-deficiency, underlying the problems regarding the biochemical and molecular identification of heterozygote females other than those regarding the standardization of the clinical and laboratory diagnostic procedures. Finally, this review is aimed to give a flow-chart for the complete diagnostic approach of G6PD-deficiency.

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The Basics of In Situ Hybridization

2013

In Situ Molecular Pathology and Co-Expression Analyses

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Detection of three common G6PD gene mutations in Chinese individuals by probe melting curves

Cited by 6 publications

References 3 publications

A Real‐Time Multiplex SNP Melting Assay to Discriminate Individuals

A Real‐Time Multiplex SNP Melting Assay to Discriminate Individuals

Glucose‐6‐phosphate dehydrogenase laboratory assay: How, when, and why?

The Basics of In Situ Hybridization

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