Screening for BRCA1 gene mutations by capillary electrophoretic REF-SSCP
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چکیده
منابع مشابه
Rapid genetic screening for hemochromatosis using automated SSCP-based capillary electrophoresis (SSCP-CE).
Hereditary hemochromatosis (HHC) represents an autosomal recessive disease in which increased iron absorption causes iron overload and irreversible tissue damage. The recently detected association between two point mutations in the HFE gene on chromosome 6p and HHC has made it possible to screen for the disease before the onset of irreversible tissue damage. Conventional genetic testing is base...
متن کاملScreening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP.
Single-strand conformation polymorphism (SSCP) is a simple method for detecting the presence of mutations in a segment of DNA, but the fraction of all mutations detected is unclear. We have evaluated SSCP for the detection of single-base mutations in the factor IX gene. Multiple conditions were examined including electrophoresis temperature, electrophoresis buffer concentration, acrylamide to b...
متن کاملشناسایی جهش های جدید در اگزون 11 ژنBRCA1 در بیماران مبتلا به سرطان پستان ارثی
Introduction: Breast cancer is the most common malignancy in women worldwide. BRCA1 is a tumor suppressor gene that is involved in DNA-damage repair. One of the significant risk factors of breast cancer is the family history. BRCA1 gene consists of 24 exons that encode a protein with 1863 amino acids. Exon 11 is the largest exons and most of the disease-linked mutations have been found in it. I...
متن کاملEffects of Using Lipsticks with any Lead Content on the BRCA1 Gene Mutations
Introduction: Breast cancer is one of the leading causes of cancer death in women. Variations in the BRCA1, BRCA2, CDH1, STK11 and TP53 genes increase the risk of developing breast cancer. In addition to specific genetic changes, environmental factors may influence an individual’s risk of developing breast cancer. Lead is one of the most dangerous chemicals in the air as well as many products,...
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ژورنال
عنوان ژورنال: Breast Cancer Research
سال: 2000
ISSN: 1465-542X
DOI: 10.1186/bcr176