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COL7A1 Gene

Cat. No N/A Categories: ,
Description

For precise product selection, please refer to the catalog number listed in the table below:

  DNA Name.Cat. NoFrameshift mutationDescription
1EB001KBC-610601c.6269delC/N (col7A1 gene) – Carrier

This mutation refers to the deletion of a nucleotide (cytosine) at position 6269, which leads to a frameshift and subsequently changes the amino acid sequence of the final protein, potentially disrupting its function.

2EB002KBC-610602c.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.

Features

Features and Benefits:

  • Provided in a volume of 50 microliters (300 ng/μL)
  •  Used in PCR for various purposes
  •  For assessing the presence or absence of the PCR product
  •  For assessing the presence or absence of the PCR product
  •  Evaluating DNA quality in terms of structure and degree of degradation
  •  Ideal for most standard genetic research applications
  •  Error prevention
  •  Comes with a genetic profile
  •  Contains normal, heterozygous, and homozygous genotypes
  •  Template for reliable amplification of long DNA fragments
  •  Southern hybridization analysis
  •  Genomic library construction
Documents

EB001 MSDS

EB002 MSDS

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