摘要
目的检测卵巢癌组织中乳腺癌易感基因(BRCA1)突变,探讨其与遗传性卵巢癌的关系。方法应用聚合酶链反应单链构象多态性分析(PCRSSCP)及非同位素银染技术,检测4例遗传性卵巢癌及31例散发性卵巢癌BRCA1基因突变。结果在3例遗传性乳腺癌卵巢癌综合征(HBOC)患者中2例BRCA1基因突变,分别位于外显子2和21。31例散发性卵巢癌和1例遗传性位点特异性卵巢癌中未检出BRCA1基因突变。结论BRCA1基因突变可能与HBOC的发病关系密切。BRCA1基因突变的检测有助于诊断HBOC。
Objective To detect breast cancer susceptibility gene (BRCA1) mutation in ovarian cancer and to look for correlations between BRCA1 mutation and hereditary ovrian cancer. Methods Mutation of BRCA1 gene in 4 patients with hereditary ovarian cancer and 31 patients with sporadic ovarian cancer were screened by polymerase chain reaction single strand conformation polymorphism analysis with non isotopic silver staining method. Results 2 mutations of BRCA1 gene were found in 2 of 3 patients belonged to hereditary breast ovarian cancer syndrom ( HBOC ) which were located in exon 2 and 21 respectively. No mutation was found in 31 cases of sporadic ovarian cancer and 1 case of hereditary site specific ovarian cancer. Conclusion BRCA1 mutation was probably closely related to hereditary breast ovarian cancer syndrome . Detection of BRCA1 gene mutation was helpful to diagnose HBOC families.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
1998年第11期676-678,共3页
Chinese Journal of Obstetrics and Gynecology