...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes
【24h】

Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes

机译：新生儿筛查Prader-Willi综合征是可行的：早期诊断以获得更好的结果

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

Prader-Willi syndrome (PWS), is a complex genetic disease affecting 1/15,000 individuals, characterized by lack of expression of genes on the paternal chromosome 15q11-q13 region. Clinical features include central hypotonia, poor suck, learning and behavior problems, growth hormone deficiency with short stature, hyperphagia, and morbid obesity. Despite significant advances in genetic testing, the mean age for diagnosis in PWS continues to lag behind. Our goal was to perform a pilot feasibility study to confirm the diagnosis utilizing different genetic technologies in a cohort of 34 individuals with genetically confirmed PWS and 16 healthy controls from blood samples spotted and stored on newborn screening (NBS) filter paper cards. DNA was isolated from NBS cards, and PWS testing performed using DNA methylation-specific PCR (mPCR) and the methylation specific-multiplex ligation dependent probe amplification (MS-MLPA) chromosome 15 probe kit followed by DNA fragment analysis for methylation and copy number status. DNA extraction was successful in 30 of 34 PWS patients and 16 controls. PWS methylation testing was able to correctly identify all PWS patients and MS-MLPA was able to differentiate between 15q11-q13 deletion and non-deletion status and correctly identify deletion subtype (i.e., larger Type I or smaller Type II). mPCR can be used to diagnose PWS and MS-MLPA testing to determine both methylation status as well as the type of deletion or non-deletion status from DNA extracted from NBS filter paper. We propose that PWS testing in newborns is possible and could be included in the Recommended Uniform Screening Panel after establishing a validated cost-effective method.
机译：PRADER-WILLI综合征（PWS）是一种复杂的遗传疾病，影响了1 / 15,000个体，其特征在于患者染色体15Q11-Q13区域的基因表达。临床特征包括中央低氧，糟糕的吮吸，学习和行为问题，生长激素缺乏身材矮小，脾脏和病态肥胖。尽管遗传检测具有重要进展，但PWS诊断的平均年龄继续落后。我们的目标是执行试点可行性研究，以确认使用不同遗传技术的诊断，其中34个群体中的群体，遗传确认的PWS和16种来自血液样本的16个健康对照，并储存在新生儿筛查（NBS）滤纸上。从NBS卡中分离DNA，并使用DNA甲基化特异性PCR（MPCR）和甲基化特异性多重连接依赖性探针扩增（MS-MLPA）染色体15探针试剂盒进行DNA，然后进行DNA片段分析，用于甲基化和拷贝数状态。 DNA提取成分于34例PWS患者的30个，16例对照。 PWS甲基化测试能够正确鉴定所有PWS患者，MS-MLPA能够区分15q11-Q13缺失和非缺失状态，并正确识别缺失亚型（即，较大的I型或较小的II型）。 MPCR可用于诊断PWS和MS-MLPA测试以确定甲基化状态以及从NBS滤纸提取的DNA的缺失类型或非缺失状态。我们建议在建立经过验证的成本有效方法后，可以在新生儿中进行PWS测试，并且可以在推荐的均匀筛选面板中。

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