Yasuga Y, Hirosawa S, Yamamoto K, Tomiyama J, Nagata K, Aokia N
First Department of Internal Medicine, Tokyo Medical and Dental University, Japan.
Int J Hematol. 1995 Aug;62(2):91-7. doi: 10.1016/0925-5710(95)00394-8.
The frequencies of p53 and N-ras gene mutations were examined in multiple myeloma. DNA samples of 45 cases of multiple myeloma were obtained from stored bone marrow smears. All samples were analyzed for the N-ras gene at codon 12 by the allele specific restriction analysis method and at codon 61 by direct sequencing. DNA was screened for mutations by single-strand conformation polymorphism analysis for the p53 gene in exons 5 to 8. DNA fragments showing an altered electrophoretic pattern were further studied by direct sequencing to confirm the mutations. Ras mutations were found in two cases at codon 61 (4.4%). A point mutation of the p53 gene was detected in one of 45 cases (2.2%). These 3 cases with mutations were in an advanced stage. In conclusion, N-ras and p53 gene mutations may occur at a late stage of multiple myeloma, but the frequencies of the mutations are very low.
在多发性骨髓瘤中检测了p53和N-ras基因突变的频率。从储存的骨髓涂片获取45例多发性骨髓瘤的DNA样本。所有样本通过等位基因特异性限制性分析方法检测N-ras基因第12密码子，通过直接测序检测第61密码子。通过单链构象多态性分析筛查外显子5至8中p53基因的突变。对显示电泳图谱改变的DNA片段进行进一步直接测序以确认突变。在2例中发现第61密码子处存在Ras突变（4.4%）。在45例中的1例中检测到p53基因的点突变（2.2%）。这3例有突变的病例处于晚期。总之，N-ras和p53基因突变可能发生在多发性骨髓瘤的晚期，但突变频率非常低。
