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Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway  期刊论文  

  • 编号:
    8c77f6fa-478c-4219-a7c3-94298f29ac8b
  • 作者:
    Luo, Zhiling(骆志玲)#[1]Shen, Yan(沈艳)[1]Chen, Wei[2];Ma, Xuejuan[1];Liu, Liping[1];Huang, Xiaoqin[3,4];Yang, Zhaoqing(杨照青)[3,4]Sun, Hao*[3,4]
  • 语种:
    英文
  • 期刊:
    GENETIC TESTING AND MOLECULAR BIOMARKERS ISSN:1945-0265 2017 年 21 卷 7 期 (440 - 444) ; JUL
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  • 摘要:

    Aims: The present study was performed to determine whether there are variants in TBX20 and genes of the Ras-MAPK pathway associated with nonsyndromic congenital heart disease (ns-CHD).
    Materials and Methods: A total of 223 ns-CHD patients and 273 healthy controls from China were selected as study subjects to perform an association analysis using 22 tag single-nucleotide polymorphisms (tag SNPs) located either in one of three genes in the Ras-MAPK pathway (MAP2K2, BRAF, and RAF1) or the TBX20 gene that have previously been associated with syndromic congenital heart disease.
    Results: The results showed that none of these tag SNPs are associated with ns-CHD.
    Conclusions: The results suggested that these disease-causing genes, which were previously discovered in familial cases, might not be the major genetic factors causing the development of ns-CHD in Chinese.

  • 推荐引用方式
    GB/T 7714:
    Luo Zhiling,Shen Yan,Chen Wei, et al. Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway [J].GENETIC TESTING AND MOLECULAR BIOMARKERS,2017,21(7):440-444.
  • APA:
    Luo Zhiling,Shen Yan,Chen Wei,Ma Xuejuan,&Sun Hao.(2017).Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway .GENETIC TESTING AND MOLECULAR BIOMARKERS,21(7):440-444.
  • MLA:
    Luo Zhiling, et al. "Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway" .GENETIC TESTING AND MOLECULAR BIOMARKERS 21,7(2017):440-444.
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