Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects.
ZH Tang, L Xia, W Chang, H Li, F Shen… - … yi xue yi chuan xue za …, 2006 - europepmc.org
ZH Tang, L Xia, W Chang, H Li, F Shen, JY Liu, Q Wang, MG Liu
Zhonghua yi xue yi chuan xue za zhi= Zhonghua yixue yichuanxue zazhi …, 2006•europepmc.orgObjective To identify mutations in GATA4 gene in Chinese patients with sporadic congenital
heart defects (CHD). Methods Single stranded conformation polymorphism (SSCP) analysis
was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4
in 31 individuals with CHD. Direct DNA sequencing was used to identify the specific
mutations. Results Two novel missense mutations, V267M in exon 4, V380M in exon 6, and
one polymorphism in intron 6 of GATA4 were identified. Conclusion The above identified two …
heart defects (CHD). Methods Single stranded conformation polymorphism (SSCP) analysis
was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4
in 31 individuals with CHD. Direct DNA sequencing was used to identify the specific
mutations. Results Two novel missense mutations, V267M in exon 4, V380M in exon 6, and
one polymorphism in intron 6 of GATA4 were identified. Conclusion The above identified two …
Objective
To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD).
Methods
Single stranded conformation polymorphism (SSCP) analysis was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4 in 31 individuals with CHD. Direct DNA sequencing was used to identify the specific mutations.
Results
Two novel missense mutations, V267M in exon 4, V380M in exon 6, and one polymorphism in intron 6 of GATA4 were identified.
Conclusion
The above identified two novel GATA4 mutations associated with CHD in Chinese patients. This suggests that the transcription factor GATA4 may play an important role in cardiogenesis.
europepmc.org