| 宁夏地区回族女性散发性乳腺癌易感基因BRCA1/BRCA2突变的研究 |
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| 引用本文： | 康毓芝,杨宝珍,陈耀平,师志云,尹琳琳. 宁夏地区回族女性散发性乳腺癌易感基因BRCA1/BRCA2突变的研究[J]. 临床检验杂志, 2011, 29(4): 295-297 |
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| 作者姓名： | 康毓芝 杨宝珍 陈耀平 师志云 尹琳琳 |
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| 作者单位： | 宁夏医科大学检验学院, 银川 750004;宁夏医科大学附属医院医学实验中心, 银川 750004;宁夏医科大学附属医院医学实验中心, 银川 750004;宁夏医科大学附属医院医学实验中心, 银川 750004;宁夏医科大学检验学院, 银川 750004 |
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| 基金项目： | 宁夏回族自治区科技厅攻关项目（2008年度）。 |
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| 摘 要： | 摘要：目的：研究宁夏地区回族女性散发性乳腺癌中BRCA1/BRCA2基因 (breast cancer susceptibility gene 1/2)的突变位点及携带情况。 方法：收集60例回族居民乳腺癌石蜡包埋组织标本及15例乳腺小叶增生或纤维腺瘤标本。PCR和DNA直接测序法检测BRCA1基因第2、11和20号外显子和BRCA2基因第11号部分外显子突变情况。 结果：60例乳腺癌BRCA1基因有10例突变，突变率为16.7%，突变位点均位于BRCA1基因。15例对照均未检出突变且淋巴结转移与未转移组间BRCA1基因突变率差异（30.8%与5.9%）有统计学意义（P＜0.05）。 结论：BRCA1基因突变可能与宁夏回族女性乳腺癌发生相关。
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| 关 键 词： | 乳腺癌；BRCA1基因；BRCA2基因；DNA测序；突变 |
| 收稿时间： | 2010-09-30 |
| 修稿时间： | 2010-12-16 |
BRCA1 and BRCA2 gene mutation in sporadic cases of Hui nationality with breast cancer in Ningxia area |
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| KANG Yu-zhi,YANG Bao-zhen,CHEN Yao-ping,SHI Zhi-yun,YIN Lin-lin. BRCA1 and BRCA2 gene mutation in sporadic cases of Hui nationality with breast cancer in Ningxia area[J]. Chinese Journal of Clinical Laboratory Science, 2011, 29(4): 295-297 |
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| Authors: | KANG Yu-zhi YANG Bao-zhen CHEN Yao-ping SHI Zhi-yun YIN Lin-lin |
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| Affiliation: | KANG Yu-zhi1,YANG Bao-zhen2,CHEN Yao-ping2,SHI Zhi-yun2,YIN Lin-lin1(1.Department of Laboratory Medicine,Ningxia Medical University,Yinchuan750004,2.Center of Medical Laboratory,the Affiliated Hospital of Ningxia Medical University,Ningxia,China) |
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| Abstract: | Objective To detect the prevalence of mutational sites of breast cancer susceptibility gene 1/2(BRCA1 and BRCA2) in the patients of Hui nationality with breast cancer in Ningxia area.Methods Paraffin imbedding and frozen tissues of breast cancer were collected from 60 breast cancer patients of Hui nationality and 15 cases benign breast diseases.The mutations of three exons(2,11 and 20) of BRCA1 gene and one exon(11) of BRCA2 gene were examined by polymerase chain reaction(PCR) and DNA direct sequencing.Resu... |
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| Keywords: | breast cancer breast cancer susceptibility gene gene 1/2 DNA sequencing mutation |
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