For precise product selection, please refer to the catalog number listed in the table below:
| DNA Name | .Cat. No | Frameshift mutation | Description | |
| 1 | EB001 | KBC-610601 | c.6269delC/N (col7A1 gene) – Carrier |
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| 2 | EB002 | KBC-610602 | c.8253-8254 delAG/N | This mutation involves the deletion of two nucleotides, adenine and guanine, which leads to a frameshift and subsequently changes the amino acid sequence of the final protein, potentially disrupting its function. |
To confirm the proper functioning of primers and other components of PCR, and to verify the efficiency of the amplification step of the target sequence, a control DNA with a known genotype profile can be used as a reference standard for regular quality control assessment of the sample under examination.
Considering the importance of prenatal diagnosis in molecular genetics and the identification of various pathogenic mutations, the use of disease-specific control DNA is crucial for both direct examination of the pathogenic genotype and the analysis of SNP patterns in genes under investigation via the RFLP method.
All control DNAs provided have been validated using sequencing or MLPA methods with an optical density (OD) range of 1.7-2.
The COL7A1 gene is located on the short arm of chromosome 3 and encodes type VII collagen protein, which is essential for anchoring the epidermis to the dermis of the skin. Mutations in this gene result in a group of inherited skin disorders known as dystrophic epidermolysis bullosa (DEB), characterized by skin fragility and blistering.
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