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

被引：32

作者：

Kariyazono, H

Ohno, T

Ihara, K

Igarashi, H

Joh-o, K

Ishikawa, S

Hara, T

机构：

[1] Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Higashi Ku, Fukuoka 8128582, Japan

[2] Kyushu Koseinenkin Hosp, Dept Pediat Cardiol, Kitakyushu, Fukuoka, Japan

[3] Childrens Hosp, Dept Pediat Cardiol, Fukuoka, Japan

来源：

MOLECULAR AND CELLULAR PROBES | 2001年 / 15卷 / 02期

关键词：

22q11.2 deletion syndrome; quantitative real-time PCR; FISH; UFD1L;

D O I：

10.1006/mcpr.2000.0340

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

We report the detection bf 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. (C) 2001 Academic Press

引用

页码：71 / 73

页数：3

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