Homeobox C9 Is Not Potentially Related to Congenital Heart Disease in Chinese Patients

被引:2
作者
Sun, Lei [1 ]
Cheng, Longfei [2 ,3 ]
Li, Congmin [4 ]
Gao, Bingren [5 ]
Wang, Binbin [2 ,3 ]
Wang, Jing [2 ,3 ]
Wang, Xiaochen [1 ]
Huang, Tianchu [6 ]
Li, Hui [1 ]
Ma, Xu [2 ,3 ,7 ]
机构
[1] China Med Univ, Dept Obstet & Gynecol, Shengjing Hosp, Shenyang 110004, Peoples R China
[2] Natl Res Inst Family Planning, Beijing 100081, Peoples R China
[3] Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China
[4] HeNan Prov Res Inst Populat & Family Planning, Zhengzhou, Peoples R China
[5] Lanzhou Univ, Hosp 2, Lanzhou 730000, Peoples R China
[6] China Med Univ, Expt Res Ctr, Shengjing Hosp, Shenyang 110004, Peoples R China
[7] World Hlth Org Collaborating Ctr Res Human Reprod, Beijing, Peoples R China
关键词
HOX GENE; SMAD4;
D O I
10.1089/gtmb.2011.0217
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Background: Congenital heart disease (CHD) is one of the most common human birth defects. The etiology and pathogenesis of CHD are complex and involve several genes as well as multiple changes in signaling pathways. The aim of this study was to identify potential pathological mutations in the Homeobox C9 (Hoxc9) gene in 350 Chinese children with CHD to further understand the etiology of CHD. Method: Sequence analysis of the Hoxc9 gene in 350 nonsyndromic patients with CHD Result: We did not identify any nonsynonymous variants in the coding regions of Hoxc9 in the patients with CHD. We found one synonymous variant c. C564T (p. his188his) in one ventricular septal defect patient. We also identified four previously reported polymorphisms (rs56368105, rs12817092, rs34079606, and rs2241820) in CHD. Conclusions: We did not find any diagnostic alterations in the coding regions of Hoxc9 among the patients with CHD. Nevertheless, to our knowledge, this is the first study of Hoxc9 in nonsyndromic CHD and has expanded our overall knowledge of the etiology of this disease.
引用
收藏
页码:439 / 441
页数:3
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