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使用长读纳米孔测序解决Kidd血型系统的基因型-表型差异

Morgan Gueuning¹, Gian Andri Thun¹, Nadine Trost²

¹Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, Rütistrasse 19, 8952 Schlieren, Switzerland.

|January 26, 2024

概括

牛津纳米孔测序准确地解决了基德血型差异,识别了已知的和新的等位基因以及以前未被发现的删除. 这种长期阅读的技术对复杂的血液组诊断具有前景.

科学领域:

遗传学和基因组学遗传学和基因组学
输血医学输血医学
分子诊断学分子诊断

背景情况:

传统的血型基因组定型方法,通常以外体为重点,难以解释血清学表型.
第三代长读测序为复杂的遗传变异提供了更高的准确性.
由SLC14A1编码的Kidd血型系统 (JK) 提出了诊断方面的挑战.

研究的目的:

利用牛津纳米孔测序来解决基因型-表型差异在Kidd血型系统.
识别影响血型表型的新型遗传变异和结构变异.
评估长读测序在常规献血者基因定型中的有效性.

主要方法:

牛津纳米孔测序用于解决11,972名捐赠者的差异.
整个SLC14A1的编码区域 (~24 kb) 使用远程PCR进行了放大.
在MinION上测序了带条码的安普利康,通过桑格测序和桥式PCR证实了这一发现.

主要成果:

确定了10例无法解释的基德血型差异.
五个病例涉及已知的弱/无等位基因,两例揭示了新的无等位基因 (c.119G>A和c.725G>A).
三个病例归因于SLC14A1外显子9-10的新型~5kb删除,其他方法错过了.

结论:

纳米孔测序可靠地检测血液组诊断中的单核酸和结构变异.
这项技术有效地解决了复杂的基因型-表型差异,包括删除.
长读测序具有很大的潜力,可以成为分子诊断组合的强大工具.

关键词:

儿童血型系统儿童血型系统牛津纳米孔测序的测序哈普洛型是指一个类型.高通量基因型定型的高通量基因型定型.长时间阅读序列排序.结构变体结构变体

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