PMID- 22969986
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20211021
IS  - 1792-0981 (Print)
IS  - 1792-1015 (Electronic)
IS  - 1792-0981 (Linking)
VI  - 3
IP  - 5
DP  - 2012 May
TI  - DNA sequencing of TGFbeta2 in sporadic patients with tetralogy of Fallot.
PG  - 878-880
AB  - Transforming growth factor beta2 (TGFbeta2) plays an essential role in cardiac 
      morphogenesis. However, the prevalence of TGFbeta2 mutations in congenital heart 
      disease (CHAD) and the correlation between the TGFbeta2 genotype and the CHAD 
      phenotype have not been studied extensively. The aim of this study was to examine 
      DNA sequence changes in the TGFbeta2 gene in sporadic patients with tetralogy of 
      Fallot (TOF), and to observe whether TGFbeta2 is the susceptibility gene for TOF. A 
      cohort of 100 pediatric patients with TOF was recruited to the study; 200 healthy 
      children were used as controls. PCR and genotyping were conducted for the 
      detection of DNA changes in TGFbeta2. The exons and the 5' untranslated region 
      (5'UTR) sequences of the TGFbeta2 gene were amplified. No mutations were identified 
      in the coding region in any of the TOF patients. However, three single nucleotide 
      changes, including 9126 A>AC, 9353 A>AG and 9040_9043 del CTTC, in the 5'UTR were 
      found. There were no significant differences in allelic frequencies and genotype 
      frequencies of position 9126 and 9353 between the TOF group and the control 
      group. On the contrary, a significant difference was identified in the allelic 
      frequencies (chi(2)=17.469, P<0.001) of position 9040_9043 in the 5'UTR between the 
      TOF group and the control group. Our results suggest that TGFbeta2 may be a 
      potential candidate gene of TOF. SNPs at position 9040_9043 del CTTC in the 5'UTR 
      of TGFbeta2 may be associated with susceptibility to TOF. The CTTC allele may be the 
      susceptibility allele for TOF. However, the exact effect of these sequence 
      changes requires further study using functional experiments.
FAU - Gao, Yan
AU  - Gao Y
AD  - Cardiac Center, Children's Hospital of Fudan University, Shanghai 201102;
FAU - Ma, Xiao-Jing
AU  - Ma XJ
FAU - Huang, Guo-Ying
AU  - Huang GY
FAU - Zhang, Jing
AU  - Zhang J
FAU - Wang, Hui-Jun
AU  - Wang HJ
FAU - Ma, Duan
AU  - Ma D
FAU - Wu, Yao
AU  - Wu Y
LA  - eng
PT  - Journal Article
DEP - 20120221
PL  - Greece
TA  - Exp Ther Med
JT  - Experimental and therapeutic medicine
JID - 101531947
PMC - PMC3438627
EDAT- 2012/09/13 06:00
MHDA- 2012/09/13 06:01
PMCR- 2012/02/21
CRDT- 2012/09/13 06:00
PHST- 2011/10/19 00:00 [received]
PHST- 2012/01/19 00:00 [accepted]
PHST- 2012/09/13 06:00 [entrez]
PHST- 2012/09/13 06:00 [pubmed]
PHST- 2012/09/13 06:01 [medline]
PHST- 2012/02/21 00:00 [pmc-release]
AID - etm-03-05-0878 [pii]
AID - 10.3892/etm.2012.492 [doi]
PST - ppublish
SO  - Exp Ther Med. 2012 May;3(5):878-880. doi: 10.3892/etm.2012.492. Epub 2012 Feb 21.