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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estudos de Casos e Controles
/
Éxons
/
Permeabilidade do Canal Arterial
/
Fator de Transcrição AP-2
/
Genética
/
Mutação
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2010
Tipo de documento:
Artigo
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