SMN Gene
to confirm the correct functioning of primers and other components of PCR and to confirm the efficiency of the desired sequence amplification step, control DNA with a specific profile can be used as a known indicator with a certain genotype. In fact, control DNA can be used as a reference standard. It was used to measure the usual quality control of the examined sample.
Considering the importance of prenatal diagnosis in molecular genetics and the identification of pathogenic mutations, the use of control DNA related to the desired disease, both in terms of directly examining the pathogenic genotype and in terms of examining the SNP pattern in the genes investigated in the method RFLP is important.
All provided DNA controls were confirmed by sequencing or MLPA with an optical absorbance of 1.7-2.
- Presentation in a volume of 50 microliters (300ng/μL)
- Used in PCR for various purposes
- To check the presence or absence of PCR product
- Examining the quality of DNA in terms of structure and degradation rate
- Ideal for most standard genetic research applications
- Avoid errors
- Eligible for genetic birth certificate
- having normal, heterozygous or homozygous genotypes
- Reliable amplification of long DNA fragments
- Southern hybridization analysis
- Genomic library construction
The PAH gene, located on chromosome 12, provides the instructions for making the enzyme phenylalanine hydroxylase, which is essential for phenylalanine metabolism. Mutations in this gene can lead to phenylketonuria (PKU), a metabolic disorder associated with the accumulation of phenylalanine in the body. If left untreated, PKU can lead to mental retardation and other serious health problems.
- One copy of the SMN1 gene and two copies of the SMN2 gene
- Two copies of the SMN1 gene and one copy of the SMN2 gene
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