早发性乳腺癌/卵巢癌BRCA1基因突变分析  

BRCA1 gene mutations in early-onset breast and/or ovarian cancer.

作　　者：许奕[1] 贾婵维[1] 王树玉[1] 

机构地区：[1]首都医科大学附属北京妇产医院,100006

出　　处：《中国优生与遗传杂志》2005年第3期21-22,26,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　探讨中国北方地区汉族人群早发性乳腺癌和卵巢癌与BRCA1基因的关系。方法　应用聚合酶链反应-单链构象多态性分析和DNA直接测序法检测BRCA1基因外显子 2和外显子 1 1部分序列。结果　对 1 2例早发性乳腺癌 /卵巢癌患者PCR -SSCP的检测中 ,在外显子 2发现 1例突变 ,经DNA测序证实突变为第 1 6 6碱基插入碱基“C”。结论　BRCA1基因突变可能与北方地区汉族人群早发性乳腺癌有关。Objective: To detect the mutations of BRCA1 gene among Chinese Han people patients with early-onset breast and/or ovarian cancer in Northern China. Methods:Polymerase chain reaction and single strand conformation polymorphism analysis (PCR-SSCP) and direct DNA sequencing were used to examine the mutation at BRCA1 gene exon 2 and 11 in 12 patients. Results: Mutation was found in one case at exon 2, which was a “C” insertion at nuclectide 166. Conclusion: BRCA1 gene may have effect on early-onset breast cancer.

关 键 词：BRCA1基因 乳腺癌 早发 卵巢癌 突变分析 DNA直接测序 汉族人群 碱基 DNA测序 构象 

分 类 号：R737.9[医药卫生—肿瘤] R541.4[医药卫生—临床医学]