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FMR1 Gene

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Description

To confirm the proper functioning of primers and other components forming the PCR and to verify the efficiency of the desired sequence amplification, a specific genotype-controlled DNA control can be used as a recognized indicator. In fact, DNA control can be used as a reference standard for assessing the quality control of the usual sample under investigation.

Given the importance of prenatal diagnosis in molecular genetics and the identification of various disease-causing mutations, the use of disease-specific DNA control is important both in direct genotype examination of the disease and in examining the SNP pattern in the genes under investigation in the RFLP method.

All DNA controls provided have been validated by sequencing or MLPA methods with optical absorption (OD) 2-1.7.

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Features

Features and Benefits:

  • Used in PCR for various purposes
  • For checking the presence or absence of PCR product
  • Examination of DNA quality in terms of structure and degradation level
  • Ideal for most standard genetic research programs
  • Error prevention
  • Possessing a genetic certificate
  • Having normal, heterozygous, and/or homozygous genotypes
  • Pattern for reliable amplification of long DNA fragments
  • Southern hybridization analysis
  • Genomic library construction

The FMR1 gene is located on chromosome X and provides instructions for making a protein called fragile X mental retardation 1 (FMRP). This protein is important for the normal development of synapses, which are the connections between nerve cells. FMRP is involved in regulating the production of other proteins in the brain, and it plays a role in the development and function of the nervous system.

Mutations in the FMR1 gene can lead to fragile X syndrome, which is a genetic condition characterized by intellectual disability, behavioral and learning challenges, and certain physical features. The severity of fragile X syndrome can vary widely among affected individuals.

KBC FMR1 gene Control DNA- “FX001”- has an expanded CGG triplet repeat mutation. It can be used as a reference or standard for comparison. This control DNA would contain a known number of CGG repeats within the FMR1 gene, representing the expanded repeat associated with fragile X syndrome.

Documents

FX001 MSDS