B-ALL TYK2 sequencing. Homo sapiens

B cell precursor acute lymphoblastic leukaemia (B-ALL) is a malignancy of lymphoid progenitor cells with altered genes including the non-receptor Janus kinase (JAK) gene family. Tyrosine kinase 2 (TYK2) is a high polymorphic member of the JAK family involved in signal transduction of cytokines. The main goal of this study was to search for disease-associated TYK2 variants in bone marrow samples from B-ALL patients at diagnosis by next-generation sequencing.

前B细胞急性淋巴细胞白血病（B-ALL）是一类淋巴祖细胞恶性肿瘤，其存在包括非受体型贾纳斯激酶（Janus kinase，JAK）基因家族在内的基因异常。酪氨酸激酶2（TYK2）作为JAK家族中高度多态性的成员，参与细胞因子的信号转导过程。本研究的主要目标为通过下一代测序技术，对初诊B-ALL患者的骨髓样本进行分析，以探寻与疾病相关的TYK2变异位点。