Objective: To detect the relationship between conotruncal heart malformation and TBX,gene. Methods: We analyzed 20 case of conotruncal heart malformation for TBX1 mutation by single strand con formation polymorphism(S...Objective: To detect the relationship between conotruncal heart malformation and TBX,gene. Methods: We analyzed 20 case of conotruncal heart malformation for TBX1 mutation by single strand con formation polymorphism(SSCP) and sequencing. Results: The SSCP changes were found in exon 3、5 、 9 of TBX1, the sequence analysis identified a base T→C at cDNA sequence of 549(sign T549C), C793T, G1447T; and these changes were found in normal chromosome. Conclusion: There are polymorphism in TBX1 among Chinese.展开更多
文摘Objective: To detect the relationship between conotruncal heart malformation and TBX,gene. Methods: We analyzed 20 case of conotruncal heart malformation for TBX1 mutation by single strand con formation polymorphism(SSCP) and sequencing. Results: The SSCP changes were found in exon 3、5 、 9 of TBX1, the sequence analysis identified a base T→C at cDNA sequence of 549(sign T549C), C793T, G1447T; and these changes were found in normal chromosome. Conclusion: There are polymorphism in TBX1 among Chinese.