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

Citation
H. Kariyazono et al., Rapid detection of the 22q11.2 deletion with quantitative real-time PCR, MOL CELL PR, 15(2), 2001, pp. 71-73
Citations number
14
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MOLECULAR AND CELLULAR PROBES
ISSN journal
08908508 → ACNP
Volume
15
Issue
2
Year of publication
2001
Pages
71 - 73
Database
ISI
SICI code
0890-8508(200104)15:2<71:RDOT2D>2.0.ZU;2-4
Abstract
We report the detection bf 22q11.2 deletions using TaqMan (TM) PCR-based ge ne 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 meth ods. The advantages of this method over FISH include: (i) rapidity; (ii) ea se; (iii) relatively low cost and; (iv) the small quantities of DNA needed. (C) 2001 Academic Press