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The vitamin D receptor (VDR also known as the calcitriol receptor) is a member of the nuclear receptor family of transcription factors. [5] Calcitriol (the active form of vitamin D , 1,25-(OH) 2 vitamin D 3 ) binds to VDR, which then forms a heterodimer with the retinoid-X receptor .
The synthesis rate of Taq polymerase is around 60 base pairs per second. Among the unmodified thermostable DNA polymerases, only the synthesis rate of KOD polymerase is above 100 base pairs per second (approx. 120 bp/s). [11] Among the modified thermostable DNA polymerases, various mutations have been described that increase the synthesis rate.
The common MTHFR deficiencies are usually asymptomatic, although the 677T variant can cause a mildly increased risk of some diseases. [citation needed]For individuals homozygous in the 677T variant, there is a mildly elevated risk of thromboembolism (odds ratio 1.2), [4] and stroke (odds ratio 1.26). [5]
At least one of the primers is chosen from a polymorphic area, with the mutations located at (or near) its 3'-end. Under stringent conditions, a mismatched primer will not initiate replication, whereas a matched primer will. The appearance of an amplification product therefore indicates the genotype. (For more information, see SNP genotyping.)
4524 17769 Ensembl ENSG00000177000 ENSMUSG00000029009 UniProt P42898 Q9WU20 RefSeq (mRNA) NM_005957 NM_001330358 NM_001161798 NM_010840 RefSeq (protein) NP_001317287 NP_005948 NP_001155270 NP_034970 Location (UCSC) Chr 1: 11.79 – 11.81 Mb Chr 4: 148.12 – 148.14 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme ...
Its name is often abbreviated to Taq or Taq pol. It is frequently used in the polymerase chain reaction (PCR), a method for greatly amplifying the quantity of short segments of DNA . T. aquaticus is a bacterium that lives in hot springs and hydrothermal vents , and Taq polymerase was identified [ 1 ] as an enzyme able to withstand the protein ...
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Taq DNA polymerase's 5’-nuclease activity is used in the TaqMan assay for SNP genotyping. The TaqMan assay is performed concurrently with a PCR reaction and the results can be read in real-time as the PCR reaction proceeds (McGuigan & Ralston 2002). The assay requires forward and reverse PCR primers that will amplify a region that includes ...