摘要
目的观察中国人Burkitt淋巴瘤中ID3、TCF3和MYC基因突变情况,并探讨其意义。方法提取32例Burkitt淋巴瘤组织DNA,经PCR扩增部分DNA片段,并采用Sanger测序法对PCR产物进行DNA序列测定。结果 ID3、TCF3的突变率分别为35.5%(11/31)、18.8%(6/32)。MYC的突变率为50%,MYC exon1的突变率为3.3%(1/30),MYC exon2的突变率为50%(15/30),MYC exon3的突变率为7.7%(2/26)。结论通过Sanger测序证实在中国人Burkitt淋巴瘤组织中存在ID3、TCF3、MYC基因的重现性突变。3例中发现新的TCF3基因突变位点c.2202G>C p.L569V。2例发现新的MYC基因突变位点c.1070A>G p.G182D。
Purpose To investigate the mutations of ID3, TCF3 and MYC genes in Chinese Burkitt lymphoma and discuss their significance. Methods Total DNA was extracted from tumor tissues of 32 patients with Burkitt lymphoma, then the DNA was amplified by polymerase chain reaction （PCR） , and the products of PCR were sequenced directly with Sanger sequencing methods. Results The mutation rates of ID3 and TCF3 genes were 35.5% （ 11/31 ） and 18.8% （6/32） respectively. The mutation rate of MYC was 50%. The mutation rates of MYC exon 1, MYC exon 2 and MYC exon 3 were 3.3% （ 1/30）, 50% （15/30） and 7. 7% （2/26） respectively. Conclusion Recurrent mutations of the ID3, TCF3 and MYC genes in Chinese Burkitt lymphoma were identified by Sanger sequencing. For TCF3 gene, a novel mutation c. 2202G 〉 C p. L569V was found in three cases. In two cases, a novel mutation of c. 1070A 〉 G p. G182D was found in MYC gene.
出处
《临床与实验病理学杂志》
CAS
CSCD
北大核心
2016年第12期1343-1347,共5页
Chinese Journal of Clinical and Experimental Pathology
基金
国家自然科学基金(81570180)
肿瘤生物学国家重点实验室开放基金(CBSKL201504)
