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Mol Cell Probes. 2001 Apr;15(2):71-3.

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

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  • 1Department of Pediatrics, Graduate School of Medical Sciences, Fukuoka, Japan.


We report the detection of 22q11.2 deletions using TaqMan(TM)PCR-based gene dosage analysis of patients previously diagnosed by fluorescent in situ hybridization (FISH). We performed quantitative PCR of the UFD1L gene from this region and showed a 99.7% statistical correlation between the two methods. The advantages of this method over FISH include: (i) rapidity; (ii) ease; (iii) relatively low cost and; (iv) the small quantities of DNA needed.

Copyright 2001 Academic Press.

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