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The BRCA1 rs80357711 – 4154delA (qPCR) product is used for genotyping the rs80357711 polymorphism located within the human BRCA1gene encoding a protein involved in DNA repair and classified as a tumor suppressor (Breast cancer type 1 susceptibility protein). The material for analysis are DNA preparations containing human genetic material.
Kit size: 100 reactions
Reaction: allelic discrimination using Taqman probes (FAM: wild-type allele, HEX: allele carrying the 4154delA mutation)
Determination: qualitative/quantitative
Tested genome: human (Homo sapiens)
Kit components:
The BRCA1 rs80357711 – 4154delA (qPCR) product is based on the Taqman genotyping technique. The DNA fragment surrounding the rs80357711 polymorphism is amplified by a pair of primers and detected by a pair of Taqman probes. The FAM-labeled probe is complementary to the DNA region containing the CTTC sequence (wild-type allele, T allele), while the HEX-labeled probe is complementary to the DNA region containing a deletion of one of the two thymidine nucleotides (mutant allele, delT allele).
During the reaction, these probes compete with each other to bind to the template. A probe that is 100% homologous to the DNA strand binds to it preferentially over the alternative probe. As the reaction progresses, a strong signal appears for the fully homologous probe and a weak signal for the alternative probe. The genotype of the sample is determined by comparing the signal intensity ratio between the two channels (FAM and HEX)*. For homozygous samples, a strong signal is obtained on one channel and a weak signal on the other channel. For heterozygous samples, which contain binding sites for each probe, an intermediate signal is obtained on both channels.
According to the dbSNP (NCBI) database, the 4154delA mutation is currently described under the number rs80357711 as a thymidine nucleotide deletion (delT). This is because the BRCA1 gene is located on the chromosome in the opposite orientation to the chromosome numbering. The rs80357711 polymorphism consists of the deletion of one of a pair of thymidine nucleotides. The wild-type allele has the sequence CTTC (nucleotides 43091495-43091498 on chromosome 17). The delT allele has the sequence CTC. Other alternative names for the 4154delA mutation are 4153delA, 4035delA, c.4035_4035delA, and p.Glu1345=fs.
The 4154delA mutation is a frameshift mutation occurring at the 3′ end of exon 11 of the BRCA1 gene. It leads to translation termination at codon 1365. The 4154delA mutation results in an increased risk of breast and ovarian cancer. It is found in people living in Russia and the Baltic countries (Poland and Latvia). It is considered a founder mutation, which means that people who have it share a common ancestor.
