title: Rapid detection of the 22q11.2 deletion with quantitative real-time PCR.
abstract: 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.
authors: Department of Pediatrics, Graduate School of Medical Sciences, Fukuoka, Japan. hide-k@mailserver.med.kyushu-u.ac.jp
authors: H
authors: H
authors: Kariyazono
authors: T
authors: T
authors: Ohno
authors: K
authors: K
authors: Ihara
authors: H
authors: H
authors: Igarashi
authors: K
authors: K
authors: Joh-o
authors: S
authors: S
authors: Ishikawa
authors: T
authors: T
authors: Hara
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D033942:Adaptor Proteins, Vesicular Transport; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D016133:Polymerase Chain Reaction / Q000379:methods*; D011506:Proteins / Q000235:genetics*; D013223:Statistics as Topic; D013577:Syndrome
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human