肺腺癌中 p16 基因外显子2的突变分析  

MUTATION ANALYSIS OF p16 GENE EXON 2 IN HUMAN LUNG ADENOCARCINOMAS

作　　者：王柏秋[1] 傅松滨[1] 李克深[1] 刘春祥[1] 张贵寅[1] 李璞[1] 

机构地区：[1]哈尔滨医科大学医学遗传研究室

出　　处：《中华医学遗传学杂志》1997年第3期152-154,共3页Chinese Journal of Medical Genetics

摘　　要：为了解肺腺癌ｐ１６基因外显子２的突变情况，应用聚合酶链反应（ＰＣＲ）及ＰＣＲ双链ＤＮＡ循环测序技术分析了２２例肺腺癌中的ｐ１６基因，结果显示：２２例肺腺癌中存在２例纯合缺失，３例点突变。其中病例１密码子５６由ＣＴＧ→ＣＡＧ的突变，编码的氨基酸由亮氨酸变为谷氨酰胺；病例１２密码子１２１由ＴＡＣ→ＴＧＣ的突变，编码的氨基酸由酪氨酸变为半胱氨酸；病例１０密码子８０由ＧＡＧ→ＡＡＧ的突变，编码的氨基酸由谷氨酸变为赖氨酸，同时这例密码子７９存在一个由ＣＧＧ→ＡＧＧ的同义突变。另外还发现１例由单碱基缺失导致的移码突变。ｐ１６基因在２２例肺腺癌中纯合缺失频率为９．１％，基因突变频率为２７．３％。可见，多重肿瘤抑制基因ｐ１６与肺腺癌的发生发展密切相关并在其演进过程中起着一定的作用。To probe into the relationship between tumorigenesis of primary lung adenocarcinoma and p16 gene changes,we analyzed 22 cases of primary lung adenocarcinoma for homozygous deletion and subtle mutations of p16 using PCR and direct dsDNA sequencing techniques.2 homozygous deletions,3 point mutations and 1 frame shift were detected.The mutations included 2 missense mutations and 1 silent mutation.Our observation showed that mutation of p16 gene was associated with the tumorigenesis and development of lung adenocarcinoma and might play a role in lung adenocarcinoma progression.

关 键 词：肺癌 P16基因 基因突变 PCR 

分 类 号：R734.202[医药卫生—肿瘤]