scholarly journals A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population

2011 ◽  
Vol 10 (4) ◽  
pp. 2597-2605 ◽  
Author(s):  
W. Zeng ◽  
L. Liu ◽  
Y. Tong ◽  
H.M. Liu ◽  
L. Dai ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Methionine Synthase ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Methionine Synthase Reductase ◽  
Reductase Gene

scholarly journals The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients

2019 ◽  
Vol 65 (6) ◽  
pp. 786-790
Author(s):  
Han-Quan Dong ◽  
Yue-Xin Du
Keyword(s):  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Copy Number ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Copy Number Variations ◽  
Chinese Han ◽  
Han Population

SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.

scholarly journals Rs2459976 in ZW10 gene associated with congenital heart diseases in Chinese Han population

Oncotarget ◽  
2017 ◽  
Vol 9 (3) ◽  
pp. 3867-3874
Author(s):  
Chao-Yu Sun ◽  
Chi Sun ◽  
Rui Cheng ◽  
Shuai Shi ◽  
Ying Han ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Chinese Han Population ◽  
Congenital Heart Diseases ◽  
Chinese Han ◽  
Han Population
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