Homo sapiens Variation

BCR-ABL1 kinase domain sequence analysis has become an essential tool of management of Ph+ leukemia patients on tyrosine kinase inhibitors therapy and the Sanger sequencing is the technique commonly utilized for this purpose. We compared a laboratory developed nanopore-based BCR-ABL1 mutation test to a traditional Sanger sequencing-based method.

BCR-ABL1激酶结构域（BCR-ABL1 kinase domain）序列分析已成为接受酪氨酸激酶抑制剂（tyrosine kinase inhibitors）治疗的费城染色体阳性（Philadelphia chromosome-positive, Ph+）白血病患者临床管理中不可或缺的工具，而桑格测序（Sanger sequencing）是当前该检测场景下普遍采用的技术方法。本研究将实验室自主研发的基于纳米孔（nanopore）的BCR-ABL1突变检测方案，与传统的基于桑格测序的检测方法进行了对比分析。