Rapid detection of the 22q11.2 deletion with quantitative real-time PCR

Kariyazono, Hidehiko; Ohno, Tetsuji; Ihara, Kenji; Igarashi, Hisato; Joho, Keith E.; Ishikawa, Shintaro; Hara, Toshiro

doi:10.1006/mcpr.2000.0340

Cited by 43 publications

(26 citation statements)

References 13 publications

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“…The advantage of quantitative PCR over Southern blotting, FISH, and comparative genomic hybridization is its speed (it takes about 4 hours from DNA extraction to the end of data analysis). Furthermore, this method is considered to have a high sensitivity [17].…”

mentioning

confidence: 99%

Biological diagnosis for neuroblastoma using the combination of highly sensitive analysis of prognostic factors

Tajiri¹,

Tanaka²,

Higashi³

et al. 2006

Journal of Pediatric Surgery

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mentioning

confidence: 99%

Biological diagnosis for neuroblastoma using the combination of highly sensitive analysis of prognostic factors

Tajiri¹,

Tanaka²,

Higashi³

et al. 2006

Journal of Pediatric Surgery

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“…Aerosol barrier tips and screwcap tubes can help decrease cross-contamination problems. 10 to 1,000 copies of template nucleic acid use in this for each real-time PCR reaction 9 . Various Primer design software programs available are Invitrogen™ OligoPerfect™ designer and Applied Biosystems™ Primer Express™ software.…”

Section: Fig 1: Steps Involved In Pcr Types Of Pcr and Factors Affectingmentioning

confidence: 99%

Polymerase Chain Reaction and Its Clinical Application: A Review

Tomar¹

2018

J. Pharm. Sci. Innov.

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Polymerase chain reaction is a popular method in molecular diagnostic in which small amount of DNA undergo five steps of denaturation, primer attachment, again repeating to form number of copies, in analogous way continued round of amplification many identical copies can be produced. There are numerous factors which play significant role in this technique like denaturation temperature (94°C), Annealing temperature (40 to 60°C), Extension temperature (72°C) also with type of DNA polymerase enzyme use like natural (Taq) or recombinant (Amplitaq). All polymerase varies in term of their properties (Their thermostability, exonuclease activity, extension rate, reverse transcriptase activity, molecular weight, resulting DNA end and so on). Its applicability is very wide ranging from genetic fingerprinting, forensic investigation, cloning, mutation detection, microarray. It is still in its development phase new advances are made every day, still need to overcome some of its drawback like variation in parameters, starting material quantification.

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“…We also examined this set of samples for the 22q11.2 deletion or DiGeorge Critical Region (DGCR) using a real time PCR assay that was suited to the available DNA samples (Kariyazono et al, 2001). Since some cases of 22q-have clefts, this approach could identify an alternate mechanism to point mutations by searching for de novo deletions resulting from genomic rearrangements.…”

Section: Deletion Assaysmentioning

confidence: 99%

“…PCR was carried out as proposed by Kariyazono et al (2001) using primers and fluorescent probes for two genes: ubiquitin fusion degradation gene (UFD1L), reported to play a role in the DGCR, and the S100B gene (mapped to chromosome 21) used as a control target and triplicated in chromosome 21 aneuploidy. Deletion 22q and Trisomy 21 controls were included.…”

Section: Deletion Assaysmentioning

confidence: 99%