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The CHEK2 rs121908698 – IVS2+1G>A (qPCR) product is used for genotyping the rs121908698 polymorphism located within the human CHEK2 gene encoding a kinase involved in cell cycle control (Checkpoint Kinase 2). 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 IVS2+1G>A mutation)
Determination: qualitative/quantitative
Tested genome: human (Homo sapiens)
Kit components:
The CHEK2 rs121908698 – IVS2+1G>A (qPCR) product is based on the Taqman probe genotyping technique. The DNA fragment surrounding the rs121908698 polymorphism is amplified by a pair of primers and detected by a pair of Taqman probes. The FAM-labeled probe is complementary to the sequence containing cytosine (wild-type allele, C allele), while the HEX-labeled probe is complementary to the sequence containing thymine (mutant allele, T allele).
During the reaction, these probes compete with each other to bind to the template. The probe that is 100% homologous to the DNA strand binds preferentially to it 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.
In the literature, the IVS2+1G>A polymorphism is also described as the 444+1G>A polymorphism. This polymorphism involves a C→T transition. In the wild-type allele, cytosine (C, nucleotide 28725242 on chromosome 22) is present. The alternative allele contains thymine (T). The IVS2+1G>A mutation occurs in the intron after exon 2 and is a “loss of function” mutation. Its presence leads to abnormal intron excision during transcription. As a result, a frameshift occurs and a non-functional protein is produced.
In the dbSNP (NCBI) database, the IVS2+1G>A mutation is described under number rs121908698. The rs121908698 polymorphism was first described in 2002 as a factor increasing the risk of prostate cancer. Subsequent studies have shown that the IVS2+1G>A mutation also increases the risk of breast, colon, kidney, and thyroid cancer.
