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心脏圆锥干畸形TBX_1基因多态性研究 被引量：1

TBX_1 POLYMORPHISM STUDY IN CONOTRUNCAL HEART MALFORMATION
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摘要 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. 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.
作者 杨进福 冯虹 夏家辉 刘锋 杨一峰
机构地区 海南省人民医院 中国医学遗传学国家重点实验室 湖南医科大学附属第二医院
出处 《海南医学》 CAS 2000年第2期77-78,共2页 Hainan Medical Journal
关键词 心脏圆锥干畸形 TBX1 基因多态性 TBX_1gene, Polymorphism,Conotruncal Heart Malformation, Single Strand Conformation Polymorphism
分类号 R541.1 [医药卫生—心血管疾病]
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参考文献5

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同被引文献16

  • 1韩秀敏,娄毅,朱鲜阳,胡晓芳,庞文跃,孙志军,张贺,张大庆,孙英贤.圆锥动脉干畸形患者TBX1基因单倍型分析[J].中华医学杂志,2006,86(22):1553-1557. 被引量：3
  • 2Gong W, Gottlieb S, Collins J, et al. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects[J]. J Med Genet, 2001, 38(12) : 45.
  • 3Conti E, Grifone N, Sarkozy A, et al.DiGeorge subtypes of non- syndromic conotruncal defects: evidence against a major role of TBX1 gene [J]. EurJ Hum Genet, 2003,11(4): 349-351.
  • 4Cabuk F, Karabulut HG, Tuncali T, et ah TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy [J]. Turk J Pediatr, 2007, 49( 1 ) : 61-68.
  • 5Griffin HR, Topf A, Glen E, et al. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants [J]. Heart, 2010, 96(20): 1651-1655.
  • 6Rauch R, Hofbeck M, Zweier C, et al. Comprehensive geno- type-phenotype analysis in 230 patients with tetralogy of Fal- lot [J]. J Med Genet, 2010, 47(5) : 321-331.
  • 7Xu YJ, Wang J, Xu R, et al. Detecting 22ql 1.2 deletion in Chi- nese children with conotruncal heart defects and single nucleo- tide polymorphisms in the haploid TBX1 locus [J]. BMC Meal Genet, 2011, 12: 169.
  • 8Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, Di- George syndrome: the chromosome 22q11. 2 deletion syn- dromes [J]. Lancet, 2007, 370(9596) : 1443-1452.
  • 9Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22ql I [I ]- Genet Med, 2001, 3(1): 45-48.
  • 10Lindsay EA, Vitelli F, Su H, et al. Tbxl haploinsufficievtcy in the DiGeorge syndrome region causes aortic arch defects in mice [J]. Nature, 2001, 410(6824): 97-101.

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二级引证文献1

海南医学
2000年 第2期

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