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The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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在临床测试中用于样本跟踪的遗传性别验证.

Jianhong Hu1, Viktoriya Korchina1, Hana Zouk2

  • 1Baylor College of Medicine, Human Genome Sequencing Center (HGSC).

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概括

一个由96名SNP组成的小组在临床网络中准确追踪了样本身份,鉴定了0.44%的样本因采集或加入错误而导致性别差异,而不是实验室交换.

关键词:
临床试验 临床试验下一代测序 (NGS) 是指下一代的测序.在SNP基因定型.性别对应书的性别对应书

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科学领域:

  • 遗传学 是一个遗传学.
  • 临床诊断 临床诊断 临床诊断
  • 生物信息学是一种生物信息学.

背景情况:

  • 临床测序网络需要强有力的质量控制,以确保样本身份和数据完整性.
  • DNA 基因型化面板提供了一种验证样品来源和检测潜在混的方法.

研究的目的:

  • 评估96SNP小组在大规模临床测序网络中的DNA基因定型的有效性.
  • 评估SNP跟踪对确保样本身份和检测混的有用性.
  • 确定基于基因型的性别预测的准确性,并确定与报告的性别的差异.

主要方法:

  • 利用了来自96SNP小组对25015个临床样本的基因定型试验的数据.
  • 在整个临床试验过程中执行精确的SNP跟踪,以监控样本身份.
  • 将基因型预测的性别与测试要求中指出的性别进行比较,以确定不一致性.
  • 使用从测序或高密度数组获得的额外SNP数据进行确认的遗传性别预测.

主要成果:

  • 通过SNP跟踪在临床试验实验室内没有检测到样本交换错误.
  • 在25,015个样本中,在基因型预测的性别和报告的性别之间发现了110个不一致性 (0.44%).
  • 差异起源于样本采集或加入过程中,归因于文书错误,跨性别人士,移植患者或未知的混.
  • 基因性别预测使用直角基因型化方法进行了验证.

结论:

  • 一个96SNP基因型组是有效的样本身份跟踪和检测在临床测序的性别差异.
  • 该研究强调了严格的分析前样本处理的重要性,以尽量减少错误.
  • 遗传性预测在临床遗传学中作为一种有价值的质量控制措施.