BRCA1 gene mutations frequency estimation by allele-specific real-time PCR of pooled genomic DNA samples
BRCA1 gene mutations frequency estimation by allele-specific real-time PCR of pooled genomic DNA samples
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DOI：
10.1016/j.breast.2012.12.007
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发表时间：
2013-08-01
期刊：
影响因子：
3.9
通讯作者：
Kovalenko, Sergey P.
中科院分区：
文献类型：
--
作者：
Anisimenko, Maksim S.;Mitrofanov, Dmitriy V.;Kovalenko, Sergey P.
在俄罗斯人群中估计了BRCA1基因中的四种突变（185delAG、T300G、4153delA和5382insC）的频率。从随机选择的新西伯利亚公民中获得的7920份DNA样本和西伯利亚医院乳腺癌患者的570份样本中分析了突变。通过等位基因特异性实时PCR检测突变。使用合并的DNA样品进行突变分析，以降低研究成本。7920例中有20例存在5382insC突变（0.25%）群体DNA样本，570个样本中有14个样本乳腺癌标本中T300G突变检出率为2.46（0.05%）和2个乳腺癌样本中185delAG或4153delA突变在7920个样品中的任何一个中都没有被鉴定，并且在各1个（0.18%）乳腺癌病例中被检测到。(C)2012爱思唯尔有限公司保留所有权利。
The frequencies of four mutations in the BRCA1 gene (185delAG, T300G, 4153delA, and 5382insC) were estimated in the Russian population. The mutations were analyzed in 7920 DNA samples obtained from randomly selected Novosibirsk citizens and 570 samples from breast cancer patients at Siberian hospitals. The mutations were detected by allele-specific real-time PCR. The mutation analysis was performed with pooled DNA samples to reduce the cost of the study. The 5382insC mutation was found in 20 of 7920 (0.25%) population DNA samples and in 14 of 570 (2.46%) breast cancer samples; the T300G mutation was detected in 4 population samples (0.05%) and in 2 breast cancer samples (0.35%); the 185delAG or 4153delA mutations were not identified in any of the 7920 samples and were detected in 1 (0.18%) breast cancer case each. (C) 2012 Elsevier Ltd. All rights reserved.