...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Annals of Human Genetics >A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of ??-Thalassaemia
【24h】

A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of ??-Thalassaemia

机译：最小的一组SNP用于无创产前诊断β-地中海贫血。

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

??-thalassaemia is one of the commonest autosomal recessive single-gene disorders worldwide. Prenatal tests use invasive methods, posing a risk for the pregnancy itself. Development of a noninvasive prenatal diagnostic method is, therefore, of paramount importance. The aim of the present study is to identify high-heterozygote informative single-nucleotide polymorphisms (SNPs), suitable for the development of noninvasive prenatal diagnosis (NIPD) of ??-thalassaemia. SNP genotyping analysis was performed on 75 random samples from the Cypriot population for 140 SNPs across the ??-globin cluster. Shortlisted, highly heterozygous SNPs were then examined in 101 carrier families for their applicability in the noninvasive detection of paternally inherited alleles. Forty-nine SNPs displayed more than 6% heterozygosity and were selected for NIPD analysis, revealing 72.28% of the carrier families eligible for qualitative SNP-based NIPD, and 92% for quantitative detection. Moreover, inference of haplotypes showed predominant haplotypes and many subhaplotypes with sufficient prevalence for diagnostic exploitation. SNP-based analyses are sensitive and specific for the detection of the paternally inherited allele in maternal plasma. This study provides proof of concept for this approach, highlighting its superiority to NIPD based on single markers and thus providing a blueprint for the general development of noninvasive prenatal diagnostic assays for ??-thalassaemia. ? 2013 Blackwell Publishing Ltd/University College London.
机译：地贫是全球范围内最常见的常染色体隐性遗传单基因疾病之一。产前检查使用侵入性方法，对怀孕本身构成风险。因此，开发非侵入性产前诊断方法至关重要。本研究的目的是确定高杂合子信息丰富的单核苷酸多态性（SNPs），适用于??地中海贫血的无创产前诊断（NIPD）的发展。对来自塞浦路斯人群的75个随机样本进行了SNP基因分型分析，分析了跨β-珠蛋白簇的140个SNP。然后在101个携带者家族中检查了入围名单，高度杂合的SNP在非侵入性检测父系遗传等位基因中的适用性。四十九个SNP显示出超过6％的杂合性，并被选择用于NIPD分析，发现符合条件的SNP基于NIPD的携带者家庭中有72.28％，定量检测的有92％。而且，单倍型的推论显示出主要的单倍型和许多亚单倍型，具有足够的诊断诊断利用率。基于SNP的分析对于检测母体血浆中父本遗传的等位基因非常敏感且具有特异性。这项研究为这种方法提供了概念证明，突出了其基于单一标记物对NIPD的优越性，从而为??地中海贫血的非侵入性产前诊断测定法的全面发展提供了蓝图。 ？ 2013布莱克韦尔出版有限公司/伦敦大学学院。

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