Genetic analysis of chromosome 22q11.2 markers in congenital heart disease

Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem‐repeat...

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Bibliographic Details
Published in:Journal of clinical laboratory analysis 2003, Vol.17 (1), p.28-35
Main Authors: Shi, Yi-Ru, Hsieh, Kai-Sheng, Wu, Jer-Yuarn, Lee, Cheng-Chun, Tsai, Chang-Hai, Yu, Ming-Tseng, Chang, Jeng-Sheng, Tsai, Fuu-Jen
Format: Article
Language:English
Subjects:
CHD
chromosome 22q11.2
Chromosome Mapping
Chromosomes, Human, Pair 22
DNA - analysis
Gene Deletion
Genetic Markers
Genotype
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Humans
In Situ Hybridization, Fluorescence
Loss of Heterozygosity
microdeletion
Minisatellite Repeats
Polymerase Chain Reaction
STRP marker
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Summary:Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem‐repeat polymorphic (STRP) markers located in the interval of the 22q11.2 region to perform genotype analysis on a large number of CHD patients (>120) and their normal relatives (>220). The results show that as regards the distribution of allelic size and frequency of these STRP markers, there were no significant differences between the CHD patients and the normal volunteers. This indicates that there is no linkage disequilibrium with these markers in CHD. In the level of heterozygosity for each marker in nonsyndromic CHD and conotruncal heart defect (CTD), there were no significant differences between the two populations. In syndromic CHD, the level of heterozygosity for D22S1648 was significantly lower than that observed in the unaffected population (χ2 = 11.25; P = 0.001). This suggests that there may be a deletion at the D22S1648 locus, and the low heterozygosity of D22S1648 indicates that this marker can be used as a genetic marker for detecting microdeletions in 22q11.2. With the use of fluorescence in situ hybridization (FISH) and real‐time quantitative polymerase chain reaction (PCR) performed on syndromic patients, we confirmed the molecular results. J. Clin. Lab. Anal. 17:28–35, 2003. © 2003 Wiley‐Liss, Inc.
ISSN:0887-8013
1098-2825
DOI:10.1002/jcla.10062