摘要
目的在嗜铬细胞瘤散发患者中进行RET原癌基因突变筛查。方法收集42例病理诊断确诊为嗜铬细胞瘤的患者基因组DNA,其中12例为外周血基因组DNA,30例为嗜铬细胞瘤病理切片组织中提取的基因组DNA。对RET原癌基因第10和第11外显子,采用DNA测序技术进行基因突变筛查。结果在42例中,2例在RET基因的第11外显子存在基因突变。1例634位密码子由TGC突变为TAC,另1例632位密码子由GAG突变为AAG。结论在嗜铬细胞瘤患者中存在RET原癌基因突变携带者,有必要对散发的嗜铬细胞瘤患者进行RET原癌基因的常规突变筛查。
Objective To screen the mutations of RET proto-oncogene in sporadic patients with pheochrmnocytoma. Methods Forty-two cases of sporadic pheochromocytoma were tested for mutations of RET gene. Of these 42 DNA samples, 12 were extracted from peripheral blood cells and 30 from paraffin-embedded pheochromocytoma specimens. The PCR product of exon 10 and exon 11 was used to molecular analysis of the RET proto-oncogene. Results Among 42 patients, 2 were found to have RET gene mutations. One of mutations located at codon 634 （TGC→TAC） in exon 11 of RET proto-oncogene. Another one located at codon 632 （GAG→AAG）. Conclusion Some patients with apparently sporadic pheochromacytoma were carrier of mutations, a routine genetic analysis for mutations of RET gene is indicated for these patients.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2006年第3期320-322,共3页
Chinese Journal of Medical Genetics
基金
国家973计划资助项目(2004CB518603)~~
