骨髓增生异常综合征患者N－ras原癌基因突变的研究

A STUDY OF N-ras ONCOGENE MUTATION IN MDS PATIENTS

应用ＰＣＲ－ＳＳＣＰ及直接测序法研究ＭＤＳ患者Ｎ－ｒａｓ原癌基因点突变。检测２６例（２８例次），发现Ｎ－ｒａｓ原癌基因第１外显子突变者１４例（５０％），统计表明Ｎ－ｒａｓ原癌基因突变与ＭＤＳ白血病转化及患者生存期缩短均有相关性（Ｐ＜０．０５），对预测ＲＡ、ＲＡＳ转化白血病有参考价值。对１例发现突变的标本进行直接测序证实为１２密码子第２碱基的Ｇ→Ａ转换。

Using PCR-SSCP and direct sequencing,we study the point mutation of N-ras oncogene in MDS patients.The genomic DNA of bone marrow(or blood )cells in 26 MDs patients(28 sapmles) was examined by PCR-SSCPand N-ras gene mutation has been found in 14 cases (50.0%).The results show N-ras gene mutation is correlatedleukemic transformation(P<0.05)and shorter survival(P<0.05).One patient being abnormal by SSCPwas proved to have the second base substitution of A for G in codon 12 of N-ras by direct sequencing.