...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genomics >Direct determination of MUC5B promoter haplotypes based on the method of single-strand conformation polymorphism and their statistical estimation.
【24h】

Direct determination of MUC5B promoter haplotypes based on the method of single-strand conformation polymorphism and their statistical estimation.

机译：基于单链构象多态性及其统计估计的直接确定MUC5B启动子单倍型。

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

Haplotype-based human genome research is important in identifying disease susceptibility genes efficiently. Although haplotype reconstruction by statistical methods is widely used, direct haplotype determination by molecular techniques has also been developed as a complementary method for statistical estimation. In this study, we demonstrate a molecular haplotyping method making use of single-strand conformation polymorphism (SSCP) gels. We identified 10 common SNPs and a dinucleotide insertion/deletion polymorphism within 2-kb region upstream of the transcription initiation site of MUC5B and determined haplotype structure, dividing the region into two DNA fragments. Real haplotypes were determined unambiguously by our SSCP-based analysis with fragments longer than 1 kb. Haplotypes reconstructed from diploid genotypes in the same region by the statistical methods including EM algorithm were also evaluated. Direct comparison between statistical estimation and direct determination of haplotypes revealed that major haplotypes containing multiple marker sites showing strong LD are estimated in great accuracy but that a variety of haplotypes reflecting weak LD are not reconstructed precisely enough. Our data can be helpful in implementing molecular haplotyping or statistical estimation, since usage of these methods may be determined depending on the haplotype structures.
机译：基于单倍型的人类基因组研究对于有效识别疾病易感基因很重要。尽管通过统计方法重建单倍型已被广泛使用，但是通过分子技术直接确定单倍型也已发展为统计估计的补充方法。在这项研究中，我们演示了一种利用单链构象多态性（SSCP）凝胶的分子单体型方法。我们确定了10个常见的SNP和MUC5B转录起始位点上游2-kb区域内的二核苷酸插入/缺失多态性，并确定了单倍型结构，将该区域分为两个DNA片段。真正的单倍型通过我们基于SSCP的分析（长度超过1 kb的片段）明确确定。还评估了通过包括EM算法在内的统计方法从同一区域的二倍体基因型重建的单倍型。统计估计和直接确定单倍型之间的直接比较表明，包含多个显示强LD标记位点的主要单倍型的估计准确度很高，但是反映弱LD的多种单倍型的重构不够精确。我们的数据可能有助于实现分子单体型分析或统计估计，因为这些方法的使用可能取决于单体型结构。

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