Mutation of TFAP-2B gene in patients with patent ductus arteriosus / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 900-904, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-286181
ABSTRACT
<p><b>OBJECTIVE</b>To identify novel genetic mutations in Chinese patients with congenital patent ductus arteriosus (PDA).</p><p><b>METHOD</b>Clinical data and peripheral blood specimens from a kindred spanning 3 generations in which 5 of 16 individuals had PDA and a cohort of 95 unrelated subjects with PDA were collected, and 100 unrelated healthy individuals were included as controls. The coding exons and flanking introns of TFAP-2B gene were amplified by polymerase chain reaction (PCR) with specific primers. We aligned the acquired sequences with which publicized in GenBank by the aid of program BLAST. Reverse transcription-polymerase chain reaction (RT-PCR) was used to amplify the parts of TFAP-2B and sequencing was performed on PCR products forward and reversely directly.</p><p><b>RESULT</b>Sequencing of TFAP-2B identified that there was a splice-junction in intron 3 [intron 3(+5)G > A] and a 60 bp deletion was found in exon 3 by nested PCR. Additionally, a novel single nucleotide polymorphism (SNP) where a transition of guanine (G) to adenine (A) was identified at 34 bp front of transcription initiation site in TFAP-2B gene. There were significant differences in the prevalence of alleles G and A between controls and PDA patients (Z = -2.513, P = 0.012).</p><p><b>CONCLUSION</b>We identified a novel splice-junction in TFAP-2B gene which might lead to hereditary PDA in a Chinese family. However, the mechanism by which this mutation results in PDA is still to be ascertained.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Case-Control Studies
/
Exons
/
Ductus Arteriosus, Patent
/
Transcription Factor AP-2
/
Genetics
/
Mutation
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Pediatrics
Year:
2010
Type:
Article
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