肺癌CDKN2/p16基因纯合缺失的研究

目的　研究 Ｃ Ｄ Ｋ Ｎ２／ｐ１６ 基因的缺失与肺癌发生、发展的关系。方法　采用多重聚合酶链反应技术，对８９ 例肺癌进行了 Ｃ Ｄ Ｋ Ｎ２／ｐ１６ 基因第１ 、２ 外显子纯合缺失的分析研究。结果　标本取材方法的改良提高了聚合酶链反应技术对基因缺失的检出率，８９ 例肺癌中检出第１ 外显子缺失率１９ ．１ ％ （１７／８９） ，第２ 外显子缺失率２２ ．５ ％ （２０／８９） ，有１４ 例第１ 、２ 外显子共同缺失，第１ 或（ 和） 第２ 外显子总缺失率为２５８ ％ （２３／８９） 。 Ｃ Ｄ Ｋ Ｎ２／ｐ１６ 基因的缺失集中发生于非小细胞肺癌， 并与转移和分期有关。结论 Ｃ Ｄ Ｋ Ｎ２／ｐ１６ 基因的缺失是非小细胞肺癌的遗传易感因素，并在其恶性进展中起一定作用。

Homozygous deletion of CDKN2/p16 gene in lung cancers

Objective To study the relationship between CDKN2/p16 gene homozygous deletion and lung cancer progression.Methods Improved multiplex PCR technique was applied to detect deletion of CDKN2/p16 gene exon 1 and exon 2 in 89 cases of lung cancers. Results Gene deletion rate was increased by the improved PCR technique. Exon 1 and exon 2 deletion rates were 19.1%(17/89) and 22 5% (20/89) respectively, with total rate of exon 1 and/or exon 2 deletion 25.8%(23/89). Deletion of CDKN2/p16 gene occurred in non small cell lung carcinoma (NSCLC) and was related to metastasis and progressive stage.Conclusion Abnormality of CDKN2/p16 gene is a genetic factor for NSCLC susceptibility, and may paly a role to some extent in NSCLC malignant progression.