宫颈癌患者基因组遗传不稳定性分析

目的 研究中国宫颈癌高发区宫颈癌患者基因组遗传不稳定性改变，为寻找宫颈癌相关内源因子提供依据。方法 从GenBank中选取8对微卫星DNA引物，采用PCR-变性PAGE-银染方法检测50例宫颈癌(来自高发区)活检组织及其对照(同病例血液)样品的杂合性丢失(LOH)和微卫星不稳定(MI)。结果 LOH总检出率为66％(33／50)，其中，D18S474(染色体18q21)LOH达40．5％；染色体3p21．2—3p21．3中微卫星位点D3S1478，LOH达31．7％；并且在原位癌与浸润癌中，LOH分布也有一定差异。MI在宫颈癌患者基因组中仅存在少数微卫星位点，总的发生率较低，为8％(4／50)。结论 除高危型人乳头瘤病毒(HPVhr)感染外，细胞内源基因的改变在宫颈癌发生发展过程中也起着重要作用。高频LOH位点18q21 D18S474、3p21．2-3p21．3 D3S1478可能存在潜在的宫颈癌抑癌基因。

Analysis of genetic instabilities of genome in cervical carcinoma patients

ObjectiveStudy on genetic instability of genome in cervical carcinoma patient in high-incidence area of China. Provide attestation for seeking cervical carcinoma related hereditary factors. Methods Loss of heterozygosity (LOH) and microsatellite instability (MI) in tumor tissues (blood from each cancer patient as control) with 8 pair microsatellite DNA markers from GenBank was analyzed by using PCR-denaturing PAGE-silver staining. Results Total LOH detected rate was 66% (33 /50). LOH of D18S474 marker (on chromosome 18q21) was 40.5%; D3S1478 (on 3p21) was 31.7%. LOH distribution was different between invasive cervical carcinoma and in situ cancer. MI was not very frequent (8%). ConclusionBesides infection of HPV_ hr , alterations of hereditary factors have an important role in cervical carcinoma occurrence and development. The putative suppressor genes were likely to be located on specific chromosome region 18q or 3p with high -frequent LOH.