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首页> 外文期刊>BMC Medical Genomics >Saliva sampling in global clinical studies: the impact of low sampling volume on performance of DNA in downstream genotyping experiments
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Saliva sampling in global clinical studies: the impact of low sampling volume on performance of DNA in downstream genotyping experiments

机译：全球临床研究中的唾液采样：低采样量对下游基因分型实验中DNA性能的影响

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Background The collection of viable DNA samples is an essential element of any genetics research programme. Biological samples for DNA purification are now routinely collected in many studies with a variety of sampling methods available. Initial observation in this study suggested a reduced genotyping success rate of some saliva derived DNA samples when compared to blood derived DNA samples prompting further investigation. Methods Genotyping success rate was investigated to assess the suitability of using saliva samples in future safety and efficacy pharmacogenetics experiments. The Oragene? OG-300 DNA Self-Collection kit was used to collect and extract DNA from saliva from 1468 subjects enrolled in global clinical studies. Statistical analysis evaluated the impact of saliva sample volume of collection on the quality, yield, concentration and performance of saliva DNA in genotyping assays. Results Across 13 global clinical studies that utilized the Oragene? OG-300 DNA Self-Collection kit there was variability in the volume of saliva sample collection with ~31% of participants providing 0.5?mL of saliva, rather than the recommended 2?mL. While the majority of saliva DNA samples provided high quality genotype data, collection of 0.5?mL volumes of saliva contributed to DNA samples being significantly less likely to pass genotyping quality control standards. Assessment of DNA sample characteristics that may influence genotyping outcomes indicated that saliva sample volume, DNA purity and turbidity were independently associated with sample genotype pass rate, but that saliva collection volume had the greatest effect. Conclusion When employing saliva sampling to obtain DNA, it is important to encourage all study participants to provide sufficient sample to minimize potential loss of data in downstream genotyping experiments.
机译：背景技术可行的DNA样本的收集是任何遗传学研究计划的重要组成部分。现在，在许多研究中，通常采用各种可用的采样方法来收集用于DNA纯化的生物样品。这项研究中的初步观察表明，与血液来源的DNA样品相比，某些唾液来源的DNA样品的基因分型成功率降低，这促使进一步研究。方法调查基因分型成功率，以评估在未来的安全性和有效性药物遗传学实验中使用唾液样本的适用性。 Oragene？ OG-300 DNA Self-Collection试剂盒用于从全球临床研究的1468名受试者的唾液中收集和提取DNA。统计分析评估了唾液样本收集量对基因分型测定中唾液DNA的质量，产量，浓度和性能的影响。结果在13项利用Oragene进行的全球临床研究中， OG-300 DNA自收集试剂盒的唾液样本收集量存在差异，约31％的参与者提供0.5？mL唾液，而不是推荐的2？mL。虽然大多数唾液DNA样品提供了高质量的基因型数据，但收集0.5？mL唾液的量使DNA样品通过基因分型质量控制标准的可能性大大降低。评估可能影响基因分型结果的DNA样本特征表明，唾液样本量，DNA纯度和浊度与样本基因型合格率独立相关，但唾液收集量影响最大。结论当采用唾液采样获得DNA时，重要的是鼓励所有研究参与者提供足够的样品，以最大程度地减少下游基因分型实验中潜在的数据丢失。

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