四川地区脉络膜黑色素瘤患者GNAQ,GNA11基因突变检测  

Genetic analyses of GNAQ and GNA11 mutation in uveal melanoma in Sichuan

作　　者：何继才[1] 杨荣琴 彭睿 HE Jicai;YANG Rongqin;PENG Rui(Department of Ophthalmology,No.1 People’s Hospital of Liangshan Yi Autonomous Prefecture,Liangshan Sichuan 615000;Department of Ophthalmology,West China Hospital,Chengdu 610000,China)

机构地区：[1]凉山彝族自治州第一人民医院眼科,四川凉山615000 [2]四川大学华西医院眼科,成都610000

出　　处：《眼科学报》2019年第2期99-102,共4页Eye Science

基　　金：国家自然科学基金(81602597)~~

摘　　要：目的:检测四川地区脉络膜黑色素瘤患者GNAQ,GNA11基因的突变情况。方法:对22名脉络膜黑色素瘤患者行眼球剜除术,眼球组织用甲醛固定,石蜡包埋保存。从肿瘤石蜡切片中提DNA进行PCR扩增反应,并对GNAQ,GNA11突变位点进行测序分析。结果:在16名患者的肿瘤组织中检测到GNAQ或GNA11基因突变,总突变率为72.73%,其中GNAQ突变率为45.45%,GNA11突变率为27.28%。结论:GNAQ,GNA11基因在四川地区脉络膜黑色素瘤患者中的突变率较高。Objective:To sequence the GNAQ and GNA11 mutation in patients with uveal melanoma from Sichuan Province.Methods:A total of 22 samples were collected from uveal melanoma patients.DNA was extracted from formalin-fixed paraffin-embedded tissue.Primers of GNAQ and GNA11 were synthesized.Polymerase chain reaction was performed and the products were sent to sequencing.Results:A total of 16 cases among the patients with uveal melanoma were found with GNAQ or GNA11 mutation.The overall mutation rate was 72.73%.And the mutation rates for GNAQ and GNA11 were 45.45%and 27.28%,respectively.Conclusion:The patients with uveal melanoma in Sichuan province have a high level of GNAQ/GNA11 mutation rate.

关 键 词：脉络膜黑色素瘤 GNAQ基因 GNA11基因 

分 类 号：R739.7[医药卫生—肿瘤]