PMID- 12526020
OWN - NLM
STAT- MEDLINE
DCOM- 20030715
LR  - 20191114
IS  - 0887-8013 (Print)
IS  - 1098-2825 (Electronic)
IS  - 0887-8013 (Linking)
VI  - 17
IP  - 1
DP  - 2003
TI  - Genetic analysis of chromosome 22q11.2 markers in congenital heart disease.
PG  - 28-35
AB  - 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 (chi(2) = 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.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Shi, Yi-Ru
AU  - Shi YR
AD  - Department of Medical Research, China Medical College Hospital, 2 Yuh-Der Road, 
      North District, Taichung 404, Taiwan.
FAU - Hsieh, Kai-Sheng
AU  - Hsieh KS
FAU - Wu, Jer-Yuarn
AU  - Wu JY
FAU - Lee, Cheng-Chun
AU  - Lee CC
FAU - Tsai, Chang-Hai
AU  - Tsai CH
FAU - Yu, Ming-Tseng
AU  - Yu MT
FAU - Chang, Jeng-Sheng
AU  - Chang JS
FAU - Tsai, Fuu-Jen
AU  - Tsai FJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Lab Anal
JT  - Journal of clinical laboratory analysis
JID - 8801384
RN  - 0 (Genetic Markers)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 22
MH  - DNA/analysis
MH  - *Gene Deletion
MH  - Genetic Markers
MH  - Genotype
MH  - Heart Defects, Congenital/diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Loss of Heterozygosity
MH  - Minisatellite Repeats
MH  - Polymerase Chain Reaction
PMC - PMC6807742
EDAT- 2003/01/15 04:00
MHDA- 2003/07/16 05:00
PMCR- 2003/01/13
CRDT- 2003/01/15 04:00
PHST- 2003/01/15 04:00 [pubmed]
PHST- 2003/07/16 05:00 [medline]
PHST- 2003/01/15 04:00 [entrez]
PHST- 2003/01/13 00:00 [pmc-release]
AID - JCLA10062 [pii]
AID - 10.1002/jcla.10062 [doi]
PST - ppublish
SO  - J Clin Lab Anal. 2003;17(1):28-35. doi: 10.1002/jcla.10062.