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目的:检测NRAS和KRAS基因在多发性骨髓瘤(MM)患者中的突变类型,探讨其在MM病理发生发展过程中的作用。方法:采用多聚酶链反应和DNA序列测定的方法,对50例MM患者骨髓细胞基因组中的NRAS基因第1和第2外显子以及KRAS基因的外显子进行检测,并与标准参考序列进行对比。结果:50例MM患者中有3例(6%)Ⅲ期男患者发现NRAS基因突变,分别为第1外显子编码区第34位核苷酸的杂合突变c.34G>A,导致第12密码子发生GCT>AGT错义突变,从而产生氨基酸Gly>Ser(G12S)的改变;c.38G>A杂合突变,导致第13密码子发生GGT>GAT,Gly>Asp(G13D)的错义突变;c.182A>T杂合突变,导致位于第2外显子中的第61密码子发生CAA>CTA,Gln>Leu(Q61L)的错义突变。未检测到KRAS基因外显子区的突变。结论:NRAS突变可能与MM的病理进程相关,NRAS G12S、G13D和Q61L突变在MM发生和发展中的功能和作用还有待进一步的深入研究。
OBJECTIVE: To detect the types of mutations in NRAS and KRAS genes in patients with multiple myeloma (MM) and to explore their role in the pathogenesis of MM. Methods: The exon 1 and exon 2 of NRAS gene and the exon of KRAS gene in the bone marrow cell genome of 50 cases of MM patients were detected by polymerase chain reaction and DNA sequencing and compared with the standard reference sequence . Results: In 50 MM patients, 3 (6%) patients with stage III NRAS gene mutation were found to be the c.34G> A heterozygous mutation at the 34th nucleotide of exon 1 coding region, 12 codon GCT> AGT missense mutation, resulting in the amino acid Gly> Ser (G12S) changes; c.38G> A heterozygous mutation, resulting in the 13th codon GGT> GAT, Gly> Asp The mutation of c.182A> T resulted in the missense mutation of CAA> CTA and Gln> Leu (Q61L) at codon 61 in exon 2. No mutations in the exon region of the KRAS gene were detected. CONCLUSIONS: The NRAS mutation may be related to the pathological process of MM. The function and role of NRAS G12S, G13D and Q61L mutations in the occurrence and development of MM remains to be further studied.