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The CHEK2 rs555607708 – 1100delG (qPCR) product is used for genotyping the rs555607708 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 1100delG mutation)
Determination: qualitative/quantitative
Tested genome: human (Homo sapiens)
Kit components:
The CHEK2 rs555607708 – 1100delG (qPCR) product is based on the Taqman probe genotyping technique. The DNA fragment surrounding the rs555607708 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 the AGT sequence (wild-type allele, G allele), while the HEX-labeled probe is complementary to the AT sequence containing the delG deletion (mutant allele, delG 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.
The 1100delG mutation was originally described as the 1100delC mutation. The current name of this polymorphism according to the dbSNP (NCBI) database is delG (reading according to the coding strand). This polymorphism consists of a deletion of the G nucleotide. The wild-type allele (G) has the sequence AGT (nucleotides 28695868-28695870 on chromosome 22). The alternative allele (delG) has the sequence AT. The deletion leads to a frameshift mutation and the formation of a non-functional protein product.
In the dbSNP (NCBI) database, the delG mutation is described under number rs555607708. The 1100delG mutation was first described in 1999 as a causative factor in the heterozygous form of Li-Fraumeni syndrome. It has also been linked to breast cancer, glioma, histiocytoma, and sarcoma. Further studies have shown that the 1100delG polymorphism significantly increases the risk of breast cancer, especially in men (10-fold), and prostate cancer (5-fold).
