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Objective: To study the gene mutations of homeobox transcription factor ( CSX /NKX2.5) associated with a Chinese familywith secundum atrial septal defect ( ASD) . Methods: Polymerase chain reaction and DNA sequencing were used to check allthe members in the family with ASD, and single strand conformation polymorphism analysis ( SSCP) was used to check 126normal control people for detecting the mutations of CSX /NKX2.5 gene. Results: Three mutations, G270A( Glu32Lys) , G378A( Glu68Lys) andG390A ( Glu72Lys) were identified in CSX /NKX2.5 gene of ASD patients. However, the other members in thefamily with ASD and the control did not have such gene mutations. Conclusion: These mutations of CSX /NKX2.5 gene,which were identified in a Chinese family, may be one of the secundum ASD etiologic causes.
Objective: To study the gene mutations of homeobox transcription factor (CSX /NKX2.5) associated with a Chinese family with secundum atrial septal defect (ASD). Methods: Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD , and single strand conformation polymorphism analysis (SSCP) was used to check 126normal control people for detecting the mutations of CSX /NKX2.5gene. Results: Three mutations, G270A (Glu32Lys), G378A (Glu68Lys) andG390A (Glu72Lys) were identified in CSX /NKX2.5 gene of ASD patients. However, the other members in the family with ASD and the control did not have such a gene mutations. Conclusion: These mutations of CSX /NKX2.5 gene, which were identified in a Chinese family, may be one of the secundum ASD etiologic causes