家族性乳腺癌患者BRCA1基因序列突变分析  

Analysis of the mutations of BRCA1 in familiar breast cancer patients

作　　者：孔灵玲[1] 崔文[1] 王旭[1] 姜小刚[1] 张国安[1] 

机构地区：[1]济宁医学院基础医学与法医学院,山东济宁272067

出　　处：《济宁医学院学报》2011年第2期96-98,共3页Journal of Jining Medical University

基　　金：卫生部科学基金资助(编号:961354)

摘　　要：目的研究山东济宁地区家族性乳腺癌(familiar breast cancer,FBC)患者BRCA1基因的突变情况。方法选取山东济宁地区8个乳腺癌家系中各1例乳腺癌患者,10例乳腺导管内乳头状瘤病例为对照。应用PCR技术和DNA直接测序技术检测BRCA1基因外显子11的突变。结果实验组与对照组在外显子11的序列中均未发现突变。结论 BRCA1突变在山东济宁地区家族性乳腺癌患者中突变率较低,今后将扩大样本数量,继续寻找突变热点。Objective To analyze the mutations of BRCA1 in familiar breast cancer patients of Jining.Methods Peripheral blood samples were obtained from 8 patients enrolled from 8 breast cancer families and 10 breast intraductal papillomatosis as control group.The mutations of BRCA1 gene exon11 were screened by the Polymerase Chain Reaction（PCR） and DNA sequencing.Results The mutation was not found in exon11 among these 8 familiar breast cancer patients and control group.Conclusion The mutation frequency of BRCA1 in familiar breast cancer patients from Jining is obviously lower than the western country.It is important that further study be conducted to explore specific mutations of this gene or other possible relevant genes in Chinese familiar breast cancer patients.

关 键 词：BRCA1 家族性乳腺癌 突变 

分 类 号：R737.9[医药卫生—肿瘤]