Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children / 中华心血管病杂志
Chinese Journal of Cardiology
; (12): 621-624, 2010.
Article
in Zh
| WPRIM
| ID: wpr-244159
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To elucidate association between the mutation of nuclear factor of activated T cells 1 (NFATC1) gene in IPT-NFAT region and simple congenital heart disease (CHD) in children.</p><p><b>METHOD</b>We used polymerase chain reaction (PCR) and the sequencing reaction to detect the mutations on the patients and their parents and (or) siblings.</p><p><b>RESULTS</b>PCR amplification of the exon 7 region showed that 2 bands are obtained in 58% of patients with CHD and in 74% of their healthy parents and (or) siblings. Sequencing of the 2 bands revealed that both are amplicons of the exon 7 region, and that the additional band harbors an additional 44 nucleotides segment in the intronic region. The homozygous form of this allele was only present in patients with ventricular septal defect (2/24), atrial septal defect (3/18) and bicuspid aortic valve (1/4) in which G to A transition at nucleotide 17 of the third 44 bps was found. Neither the unrelated non-CHD individuals nor the ones with other CHD showed positive presence for the homozygous form of this allele.</p><p><b>CONCLUSIONS</b>There is a differential amplification of a tandem repeat region in intron 7 of NFATC1 and homozygous form of this allele in patients with ventricular septal defect, atrial septal defect and bicuspid aortic valve. NFATC1 gene may be an a susceptibility marker for ventricular septal defect, atrial septal defect and bicuspid aortic valve.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
Genetic Testing
/
NFATC Transcription Factors
/
Genetics
/
Heart Defects, Congenital
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Zh
Journal:
Chinese Journal of Cardiology
Year:
2010
Type:
Article