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目的研究急性髓性白血病(AML)患者含SH2肌醇磷脂酶(SHIP)基因突变和单核苷酸多态性(SNP)及其临床意义。方法采用基因组PCR、RT-PCR和直接测序等方法,在72例AML患者中检测SHIP基因突变和SNP。结果SHIPQ1153L为新发现的突变,阳性率1·4%。结论SHIPQ1153L突变可能参与了继发性AML的分子发病机制。
Objective To study the SH2 gene mutations and single nucleotide polymorphisms (SNPs) in patients with acute myeloid leukemia (AML) and its clinical significance. Methods Genomic PCR, RT-PCR and direct sequencing were used to detect SHIP gene mutation and SNP in 72 AML patients. Results SHIPQ1153L was a newly discovered mutation with a positive rate of 1.4%. Conclusion SHIPQ1153L mutation may be involved in the molecular pathogenesis of secondary AML.