遗传性卵巢癌组织中BRCA2基因突变的检测

目的 探讨BRCA2基因在遗传性卵巢癌组织中的突变,及临床意义。方法 采用BRCA2基因第11外显子的一对引物,应用聚合酶链反应-单链构象多态性（PCR-SSCP）及非同位素DNA银染方法,检测12例遗传性卵巢癌组织及15例散发生卵巢癌组织中BRCA2基因第11外显子6174delT突变的情况。结果 12例遗传性卵巢癌组织中有2例检测到BRCA2基因第11外显子6174delT突变。15例散发性卵巢癌组织中无一例BRCA2基因第11外显子6174delT突变。结论 BRCA2基因突变可能与遗传性卵巢癌的发生有关。

BRCA2 gene mutation detection in hereditary ovarian cancer tissues

Objective The aim of this study was to detect the mutation of BRCA2 gene in hereditary ovarian cancer tissues to probe the clinical significance of it Methods DNA was abstract from paraffin embeded tissues archived in phathology department A pair of primer located on 11 exon was used to detect the 6174 delT mutation,BRCA2 gene mutation in 12 hereditary ovarian cancer patients and 15 sporadic ovarian cancer patients were screened by polymerase chain reaction single strand conformation polymorphism analysis with DNA non isotopic silver staining methods Results Two of 12 hereditary ovarian cancer victims were found carrying mutation of BRCA2 gene The mutation type was 6174del T in the 11 exon of BRCA2 gene No mutation of BRCA2 gene on this site was found in 15 sporadic ovarian cancer patients Conclusion BRCA2 gene mutation was closely associated with the carcinogenesis and development of hereditary ovarian cancer, but had no relationship with sporadic ovarian cancer