单核苷酸多态性(single nucleotide polymorphisms,SNPs)作为人体基因组单个核苷酸变异所导致的DNA序列多态性,是第3代分子遗传标志,它决定基因的功能单位和人群遗传变异的内在特征。SNPs反映了个体表型、疾病易感性以及对药物、环境等影响因素反应的差异。血液肿瘤是一种多基因遗传疾病,涉及到多个遗传易感基因的相互作用。本文拟就近年来SNPs在血液肿瘤研究领域的相关进展作一综述。
Single nucleotide polymorphisms(SNPs)are the 3rd generation of molecular genetic markers of crowd,which determine the functional units of gene and the inherent characteristics of genetic variation,which reflects the individual phenotype,disease susceptibility and drug response to differences in environmental factors.Hematological cancer is a multi-gene genetic disease,and is involved in factors more than the role of genetic susceptibility genes.This review intends to introduce the single nucleotide polymorphisms and their relevant progress in the blood cancer research.