22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR.
- VernacularTitle:先天性心脏病患儿22q11微缺失的定量荧光聚合酶链反应检测
- Author:
Ying CHEN
1
;
Jun MAO
;
Ka Yin KWOK
;
Hui-juan KAN
;
Hong-bo CHENG
;
Hai-bo LI
;
Min-juan LIU
;
Ying SUN
;
Wen-hua YAN
;
Hong LI
;
Kwong Wai CHOY
Author Information
- Publication Type:Journal Article
- MeSH: Case-Control Studies; Chromosome Deletion; Chromosomes, Human, Pair 22; genetics; Fluorescence; Heart Defects, Congenital; diagnosis; genetics; Humans; Microsatellite Repeats; Polymerase Chain Reaction; instrumentation; methods
- From: Chinese Journal of Medical Genetics 2010;27(5):571-575
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).
METHODSSeventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR).
RESULTSThe average heterozygosity of the STR markers in patients and controls was 0.76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA).
CONCLUSIONThe QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.
