首页> 外文期刊>Genetic Testing >Genotyping the GGGCGG Tandem Repeat Promoter Polymorphism in the 5-Lipoxygenase Enzyme Gene (ALOX5) by Pyrosequencing Assay
【24h】

Genotyping the GGGCGG Tandem Repeat Promoter Polymorphism in the 5-Lipoxygenase Enzyme Gene (ALOX5) by Pyrosequencing Assay

机译:通过焦磷酸测序法对5-脂氧合酶基因(ALOX5)中GGGCGG串联重复启动子多态性进行基因分型

获取原文
获取原文并翻译 | 示例
       

摘要

Aims: Efficient genotyping methods for many biologically significant repeat genetic polymorphisms, particularly in GC-rich regions of the genome, are limited. In particular, a short tandem repeat polymorphism [GGCGGG] in the promoter region of ALOX5 has been implicated as an important marker for inflammatory diseases. We developed a pyrosequencing assay to genotype the ALOX5 short tandem repeat polymorphism using pyrosequencing technology that will make assessing this important genetic marker in large, diverse populations more accessible than using current methods. Materials and Methods: We used a nested polymerase chain reaction approach to amplify DNA for pyrosequencing. Population allele frequencies were assessed in two cohorts of previously collected human DNA samples with 188 and 1032 samples, respectively. Sixteen genetic samples with known genotypes were used to confirm the accuracy of the method. Results and Discussion: Genotypes were 100% concordant with samples of known genotype. Genotype frequencies in European American, Hispanic, and African American agreed with previously published results (wild-type homozygotes 66%, 64%, and 19%, respectively). The method presented here will facilitate both genetic association and pharmacogenomic research on this polymorphism in large samples that are ethnically and/or racially admixed.
机译:目的:许多生物学上重要的重复遗传多态性(尤其是在富含GC的基因组区域中)的有效基因分型方法受到限制。特别地,已经暗示ALOX5的启动子区域中的短串联重复序列多态性[GGCGGG]是炎性疾病的重要标志。我们开发了一种焦磷酸测序测定法,使用焦磷酸测序技术对ALOX5短串联重复序列多态性进行基因分型,这将使​​评估大型不同人群中的这一重要遗传标记比使用当前方法更为容易。材料和方法:我们使用巢式聚合酶链反应方法扩增DNA进行焦磷酸测序。在两个先前收集的人类DNA样本队列中分别评估了188个和1032个样本的种群等位基因频率。使用十六种具有已知基因型的遗传样本来确认该方法的准确性。结果与讨论:基因型与已知基因型的样本100%一致。欧美,西班牙裔和非裔美国人的基因型频率与先前发表的结果一致(野生型纯合子分别为66%,64%和19%)。此处介绍的方法将有助于在种族和/或种族混合的大样本中对该多态性进行遗传关联和药物基因组学研究。

著录项

  • 来源
    《Genetic Testing》 |2009年第3期|361-365|共5页
  • 作者单位

    Center for Pharmacogenomics, College of Pharmacy, University of Florida, Gainesville, Florida;

    Keck School of Medicine, University of Southern California, Los Angeles, California;

    Centers for Clinical Pediatric Pharmacology and Pharmacogenetics, Nemours Children's Clinic, Jacksonville, Florida;

    Center for Pharmacogenomics, College of Pharmacy, University of Florida, Gainesville, Florida;

    Center for Pharmacogenomics, College of Pharmacy, University of Florida, Gainesville, Florida;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

  • 入库时间 2022-08-17 13:21:26

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