Xu Pei-Pei, Chen Bao-An, Cheng Shu
Department of Hematology, Zhongda Hospital, Southeast University Clinical Medical College, Nanjing 210009, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2010 Feb;18(1):250-4.
Single nucleotide polymorphisms (SNPs) are the 3rd generation of molecular genetic markers of human populations.SNPs determine the functional units of genes and the inherent characteristics of genetic variation, and reflect the individual phenotype, disease susceptibility and differences of response to drug and environmental factors. Hematological malignancy is a multi-gene genetic diseases, and involve in the role of multigenic susceptible genes. This review intends to introduce the single nucleotide polymorphisms and their relevant progress of research on hematologic malignancies, including the SNP of carcinogen-metabolizing enzymes genes, the SNP of DNA repair genes, the SNP of oncogenes and anti-oncogene genes, the SNP of drug-metabolizing enzyme genes and so on.
单核苷酸多态性(SNPs)是人类群体的第三代分子遗传标记。单核苷酸多态性决定基因的功能单元和遗传变异的内在特征,并反映个体表型、疾病易感性以及对药物和环境因素反应的差异。血液系统恶性肿瘤是多基因遗传性疾病,涉及多基因易感基因的作用。本文综述旨在介绍单核苷酸多态性及其在血液系统恶性肿瘤研究中的相关进展,包括致癌物代谢酶基因的单核苷酸多态性、DNA修复基因的单核苷酸多态性、癌基因和抑癌基因的单核苷酸多态性、药物代谢酶基因的单核苷酸多态性等。