Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 134-137, 2006.
Article
in English
| WPRIM
| ID: wpr-263835
ABSTRACT
<p><b>OBJECTIVE</b>To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>Two novel missense mutations, V267M in exon 4, V380M in exon 6, and one polymorphism in intron 6 of GATA4 were identified.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Exons
/
Point Mutation
/
Amino Acid Substitution
/
Mutation, Missense
/
Asian People
/
GATA4 Transcription Factor
/
Genetics
Type of study:
Prognostic study
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
Language:
English
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article
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