کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6170094 | 1251189 | 2013 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
BRCA1 gene mutations frequency estimation by allele-specific real-time PCR of pooled genomic DNA samples
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
زنان، زایمان و بهداشت زنان
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چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Breast - Volume 22, Issue 4, August 2013, Pages 532-536
Journal: The Breast - Volume 22, Issue 4, August 2013, Pages 532-536
نویسندگان
Maksim S. Anisimenko, Dmitriy V. Mitrofanov, Olga B. Chasovnikova, Mikhail I. Voevoda, Sergey P. Kovalenko,