体细胞突变与先天性心脏病关系的研究进展
摘要
先天性心脏病（congenital heart disease，CHD）是最常见的出生缺陷，在新生活产婴儿中的发病率为6‰-8‰^[1]。目前CHD发病机制尚不明确，有研究提出体细胞突变可能是CHD发病机制之一，并证实了体细胞突变的存在，但后续的研究均未发现体细胞突变的存在。因此CHD患者心肌组织是否存在体细胞突变，体细胞突变能否成为CHD发病机制之一尚存在争议，本文就此进行综述。
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2012年第8期634-635,共2页
Chinese Journal of Pediatrics
参考文献34
-
1Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coil Cardiol, 2002, 39: 1890-1900.
-
2Lerman BB, Dong B, Stein KM, et al. Right ventricular outflow tract taehycardia due to a somatic cell mutation in G protein subunitalphai2. J Clin Invest, 1998, 101:2862-2868.
-
3Gollob MH, Jones DL, Krahn AD, et al. Somatic mutations in the eonnexin 40 gene ( GJA5 ) in atrial fibrillation. N Engl J Med, 2006, 354:2677-2688.
-
4Thibodeau IL, Xu J, Li Q, et al. Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue. Circulation, 2010, 122: 236-244.
-
5Limaye N, Wouters V, Uebelhoer M, el al. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet, 2009, 41:118-124.
-
6Britz-Cunningham SH, Shah MM, Zuppan CW, et al. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med, 1995,332: 1323-1329.
-
7Reamon-Buettner SM, Heeker It, Spanel-Borowski K, et al. Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. Am J Pathol, 2004, 164:2117-2125.
-
8Reamon-Buettner SM, Borlak J. Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. J Med Genet, 2004, 41: 684-690.
-
9Reamon-Buettner SM, Borlak J. NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum Mutat, 2010, 31 : 1185- 1194.
-
10Inga A, Reamon-Buettner SM, Borlak J, et al. Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system Hum Mol Genet, 2005, 14:1965-1975.
-
1郭亦超,周湘艳.利用皮肤黑色素细胞分化异常估计体细胞突变的研究进展[J].中华放射医学与防护杂志,1994,14(6):420-423.
-
2郑芳芳,朱理敏,高平进.体细胞突变在醛固酮腺瘤发病中的作用[J].国际心血管病杂志,2016,43(1):39-42.
-
3李晓昀,苏敏,张国红,田东萍,林雯婷.潮汕食管癌线粒体DNA体细胞突变研究[J].汕头大学医学院学报,2011,24(2):68-71.
-
4梁媛,覃君慧,王敬博,王瑞安.体细胞突变肿瘤发生理论之悖论[J].医学争鸣,2012,3(4):25-26. 被引量：5
-
5刘佳育,刘睿智.美国华盛顿州出生缺陷监视系统(1995—2004情况报告)[J].中国优生与遗传杂志,2008,16(5):4-8. 被引量：1
-
6李风霞,姜巧玲.师级计生站如何做好出生缺陷干预[J].兵团医学,2006(3):62-63.
-
7史军.有选择地吃“烂果子”[J].健康博览,2015,0(4):54-55.
-
8张战红.青岛市实施产前诊断技术的实践与体会[J].中华医院管理杂志,2007,23(9):638-640.
-
9孟谊,王立峰.非小细胞肺腺癌驱动突变的研究进展[J].肿瘤研究与临床,2014,26(10):703-707. 被引量：1
-
10涂瀛.流行病学进展[J].人民军医,1989,32(6):18-20.
