Mutation of TFAP-2B gene in patients with patent ductus arteriosus
OBJECTIVE: To identify novel genetic mutations in Chinese patients with congenital patent ductus arteriosus (PDA)
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 48(2010), 12 vom: 20. Dez., Seite 900-4 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2010
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | English Abstract Journal Article Research Support, Non-U.S. Gov't TFAP2B protein, human Transcription Factor AP-2 |
| Zusammenfassung: | OBJECTIVE: To identify novel genetic mutations in Chinese patients with congenital patent ductus arteriosus (PDA) METHOD: 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 RESULT: 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) CONCLUSION: 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 |
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| Beschreibung: | Date Completed 03.11.2011 Date Revised 07.06.2016 published: Print Citation Status MEDLINE |
| ISSN: | 0578-1310 |