• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>The Journal of molecular diagnostics: JMD >Resequencing the whole MYH7 gene (including the intronic, promoter, and 3′ UTR sequences) in hypertrophic cardiomyopathy
【24h】

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3′ UTR sequences) in hypertrophic cardiomyopathy

机译：在肥厚型心肌病中重测序整个MYH7基因（包括内含子，启动子和3'UTR序列）

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

MYH7 mutations are found in ～20% of hypertrophic cardiomyopathy (HCM) patients. Currently, mutational analysis is based on the sequencing of the coding exons and a few exon-flanking intronic nucleotides, resulting in omission of single-exon deletions and mutations in internal intronic, promoter, and 3′ UTR regions. We amplified and sequenced large MYH7 fragments in 60 HCM patients without previously identified sarcomere mutations. Lack of aberrant PCR fragments excluded single-exon deletions in the patients. Instead, we identified several new rare intronic variants. An intron 26 single nucleotide insertion (-5 insC) was predicted to affect pre-mRNA splicing, but allele frequencies did not differ between patients and controls (n = 150). We found several rare promoter variants in the patients compared to controls, some of which were in binding sites for transcription factors and could thus affect gene expression. Only one rare 3′ UTR variant (c.*29T>C) found in the patients was absent among the controls. This nucleotide change would not affect the binding of known microRNAs. Therefore, MYH7 mutations outside the coding exon sequences would be rarely found among HCM patients. However, changes in the promoter region could be linked to the risk of developing HCM. Further research to define the functional effect of these variants on gene expression is necessary to confirm the role of the MYH7 promoter in cardiac hypertrophy.
机译：在约20％的肥厚型心肌病（HCM）患者中发现MYH7突变。当前，突变分析基于编码外显子和一些外显子侧翼内含子核苷酸的测序，从而导致内部内含子，启动子和3'UTR区域中单外显子缺失和突变被忽略。我们在60例HCM患者中扩增和测序了大的MYH7片段，但未事先鉴定出肌节突变。缺乏异常的PCR片段排除了患者的单外显子缺失。相反，我们确定了几种新的罕见内含子变体。预测内含子26单核苷酸插入（-5 insC）会影响mRNA之前的剪接，但等位基因频率在患者和对照组之间没有差异（n = 150）。与对照相比，我们在患者中发现了几种罕见的启动子变体，其中一些位于转录因子的结合位点，因此可能影响基因表达。对照组中仅发现一种罕见的3'UTR变异体（c。* 29T> C）。这种核苷酸变化不会影响已知microRNA的结合。因此，在HCM患者中很少会发现编码外显子序列以外的MYH7突变。但是，启动子区域的变化可能与发展成HCM的风险有关。为了确定MYH7启动子在心脏肥大中的作用，进一步研究以确定这些变体对基因表达的功能作用是必要的。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号