Identifiable universal fluorescent multiplex PCR equipped with capillary electrophoresis for genotyping of exons 1 to 5 in human red and green pigment genes

Pan, Tzu-Yu; Kou, Hwang‐Shang; Wu, Shou‐Mei; Wang, Chun-Chi

doi:10.1016/j.talanta.2021.123199

Cited by 4 publications

(2 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…CE serves as a powerful analytical tool for the products of multiplex polymerase chain reaction (PCR), making their combination a reliable and high-throughput technique for the determination of multiple DNA or RNA targets from human, animal, or plant samples. An identifiable universal fluorescent multiplex PCR assay was described by Pan et al., aiming to simultaneously detect 10 exons from red pigment and green pigment genes in patients with normal vision and with color vision deficiency . All of the PCR products were analyzed using CE with short-end injection, providing the advantages of high resolution and rapid separation.…”

Section: Applicationsmentioning

confidence: 99%

“…An identifiable universal fluorescent multiplex PCR assay was described by Pan et al, aiming to simultaneously detect 10 exons from red pigment and green pigment genes in patients with normal vision and with color vision deficiency. 147 All of the PCR products were analyzed using CE with short-end injection, providing the advantages of high resolution and rapid separation. Zhou et al used solid-phase hybridization capture and CGE-LIF for the detection of multiple single nucleotide polymorphisms.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Capillary Electrophoresis: A Three-Year Literature Review

Li,

Miao,

Tan

et al. 2024

Anal. Chem.

View full text Add to dashboard Cite

Section: Applicationsmentioning

confidence: 99%

mentioning

confidence: 99%

Capillary Electrophoresis: A Three-Year Literature Review

Li,

Miao,

Tan

et al. 2024

Anal. Chem.

View full text Add to dashboard Cite

Species authentication in meat products sold in Kilosa District in Tanzania using HRM-enhanced DNA barcoding

Dule,

Kinimi,

Bakari

et al. 2024

J Consum Prot Food Saf

View full text Add to dashboard Cite

Development, optimization and application of a Universal Fluorescence Multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors

Zhang,

Yao,

Zhang

et al. 2024

Preprint

View full text Add to dashboard Cite

Background A number of genetic aberrations are associated with the BCL6-correpresor gene (BCOR), including internal tandem duplications (ITDs) and fusions (BCOR-CCNB3 and BCOR-MAML3), as well as YWHAE-NUTM2, which are found in clear cell sarcoma of the kidney (CCSK), sarcoma with BCOR genetic alterations, primitive myxoid mesenchymal tumor of infancy, and high-grade neuroepithelial tumors in children. Detecting these gene aberrations is crucial for tumor diagnosis. ITDs can be identified by targeted Sanger sequencing or agarose gel electrophoresis. However, gene fusions are usually detected through reverse transcription-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization. Methods that monitor these variants simultaneously in a sensitive and convenient manner are lacking in clinical practice. Methods This study validated a Universal Fluorescence Multiplex PCR-based assay that assessed BCOR ITDs, BCOR-CCNB3, BCOR-MAML3 and YWHAE-NUTM2 fusions simultaneously. Results The assay achieved a detection threshold of 10 copies for fusion genes and 0.3 ng genomic DNA for BCOR ITDs. The performance of this assay was also tested in a cohort of 43 pediatric tumors (17 undifferentiated small round cell sarcomas, and 26 tumors with a histological diagnosis of CCSK). In total, 20 BCOR ITDs, 4 BCOR-CCNB3 and one YWHAE-NUTM2 were detected. When compared with the final diagnosis, the assay achieved 93% sensitivity and 100% specificity. Conclusions Accordingly, this assay provided an effective and convenient method for detecting BCOR- and YWHAE-related abnormalities in tumors.

show abstract

Identifiable universal fluorescent multiplex PCR equipped with capillary electrophoresis for genotyping of exons 1 to 5 in human red and green pigment genes

Cited by 4 publications

References 30 publications

Capillary Electrophoresis: A Three-Year Literature Review

Capillary Electrophoresis: A Three-Year Literature Review

Species authentication in meat products sold in Kilosa District in Tanzania using HRM-enhanced DNA barcoding

Development, optimization and application of a Universal Fluorescence Multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors

Contact Info

Product

Resources

About