摘要
用聚合酶链反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）、ＤＮＡ直接测序和多重ＰＣＲ法，检测了１８例慢性粒细胞白血病（ＣＭＬ），１例Ｋ５６２细胞株，９例急性粒细胞性白血病（ＡＭＬ），６例急性淋巴细胞性白血病（ＡＬＬ），２例多发性骨髓瘤（ＭＭ）患者外周血／培养细胞ＤＮＡ中Ｐ１６基因的点突变和基因缺失。用ＰＣＲ－ＳＳＣＰ共筛查出５例ＣＭＬ中Ｐ１６基因的异常，突变率为２７．８％（５／１８），对其中１例外显子２异常者经测序证实为第１５１密码子ＣＣＣ→ＣＧＣ的转换，导致Ｐｒｏ→Ａｒｇ的错义突变；并检出１例ＭＭ中Ｐ１６基因外显子３的异常；受检的ＡＬＬ，ＡＭＬ，Ｋ５６２细胞株中，未检出突变。各病例中均未检出Ｐ１６基因的缺失。本文探讨了白血病中Ｐ１６基因突变的意义。
Using PCR SSCP followed by DNA direct sequencing and multiple PCR,18 cases of chronic myelogenous leukemia(CML),9 acute myelogenous leukemia,6 acute lymphoblastic leukemia(ALL),2 multiple myeloma(MM),and one K562 cell line,were investigated for point mutation and deletion of the P16 gene,which encoding a cyclin dependent kinase 4/6 inhibitor.5 cases of CML and one case of MM presented bandshifts in SSCP analysis.One case of SSCP(+)CML was verified by direct sequencing to be a C/G transition in codon 151,which resulted in missense mutation of Pro→Arg.No deletion was found by multiple PCR in all cases.According to the positions of the detected mutations,although there was relatively high mutation frequency of P16 gene in CML(27.8%,5/18),it may not lead to P16 inactivation.It seemed that P16 gene mutation did not play prominent role in leukemic cancerogenesis.
出处
《中山大学学报（医学科学版）》
CAS
CSCD
1997年第S1期18+20-21,19+25,共5页
Journal of Sun Yat-Sen University:Medical Sciences
基金
CMB基金
