Genome Mutations

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Human genome mutations/Agarose gel

Code	Kit	Description	N. test
AmpliKit P2Y12: new
0702	Platelet ADP receptor, P2Y12 H1/H2	PCR mediated amplification of human genomic DNA region of the platelet ADP receptor, and subsequent restriction fragments length polymorphism analysis (PCR-RFLP)	50
AmpliKit TPA: new
0701	Tissue plasminogen activator, 311 bp I/D	PCR mediated amplification of human genomic DNA region surrounding the 311 bp Alu-repeat I/D polymorphism in intron 8 of the TPA gene	50
Amplikit MTHFR C677T
0503	Methylenetetrahydrofolate reductase (MTHFR), 677 C/T Applications: Atherosclerosis, arterial and venous thrombosis, obstetrics complications	Amplification of human genomic DNA region surrounding the position 677 of the methylenetetrahydrofolate reductase gene, and subsequent restriction fragments length polymorphism analysis	50
Amplikit PRT
0502	Coagulation factor II (prothrombin), 20210 G/A Applications: Venous and arterial thrombosis, obstetrics complications	Amplification of human genomic DNA region surrounding the position 20210 of the factor II gene, and subsequent restriction fragments length polymorphism analysis	50
Amplikit FVL
0501	Coagulation factor V, 1691 G/A (FV Leiden) Applications: Venous thrombosis, obstetrics complications, arterial thrombosis at young age	Amplification of human genomic DNA region surrounding the position 1691 of the factor V gene, and subsequent restriction fragments length polymorphism analysis	50
Amplikit ENOS
0601	Endothelial Nitric Oxide Synthase eNOS 786 T/C Applications: Hypertension, atherosclerosis, venous and arterial thrombosis, obstetrics complications	PCR mediated amplification of human genomic DNA region surrounding the position “–786” of the nitric oxide endothelial synthetase (eNOS) gene, and subsequent restriction fragments length polymorphism analysis (PCR-RFLP)	50
Amplikit MTHFD1
0602	Methylenetetrahydrofolate dehydrogenase (MTHFD1), 1958 G/A Applications: Therapeutic response to antifolate chemotherapeutics in acute lymphoblastic leukemia, risk of pregnancy loss, risk of neural tube defect, risk of abruptio placentae, atherosclerosis, venous and arterial thrombosis	PCR mediated amplification of human genomic DNA region surrounding the position 1958 of the MTHFD1 gene, and subsequent restriction fragments length polymorphism analysis (PCR-RFLP)	50
Amplikit ESTR
0603	Estrogen receptor (ER-α), IVS-1- 397T/C Applications: Myocardial infarction, intracerebral hemorrhage, osteoporosis, breast cancer, neurodegenerative diseases	PCR mediated amplification of human genomic DNA region surrounding the position –397 of the ER-α gene intron 1 (IVS-1), and subsequent restriction fragments length polymorphism analysis (PCR-RFLP)	50
Amplikit VDRF
0604	Vitamine D receptor D (VDR), start codon F/f Applications: Osteoporosis, tuberculosis, prostate cancer, breast cancer, urolithiasis	PCR mediated amplification of human genomic DNA region surrounding start codon of the vitamin D receptor (VDR) gene, and subsequent restriction fragments length polymorphism analysis (PCR-RFLP)	50
Amplikit GPIA
0505	Glycoprotein Ia (GpIa), 807 C/T Applications: Atherosclerosis, arterial and venous thrombosis, obstetrics complications	Amplification of human genomic DNA region surrounding the position 807 of the glycoprotein Ia gene, and subsequent restriction fragments length polymorphism analysis	50
Amplikit HPA-1
0506	Glycoprotein IIIa (GpIIIa), 1565 T/C (PIA1/A2) Applications: Arterial and venous thrombosis, obstetrics complications, platelet transfusions	Amplification of human genomic DNA region surrounding the position 1565 of the glycoprotein IIIa gene, and subsequent restriction fragments length polymorphism analysis	50
Amplikit HPA-2
0507	Glycoprotein Ibα (GpIbα), 434 C/T (Thr145Met) Applications: Arterial and venous thrombosis, obstetrics complications, platelet transfusions	Amplification of human genomic DNA region surrounding the position 434 of the glycoprotein Ibα gene, and subsequent restriction fragments length polymorphism analysis	50
Amplikit HPA-3
0509	Glycoprotein IIb (GpIIb), 843 IIe/Ser Applications: platelet transfusions	Amplification of human genomic DNA region surrounding the position 843 of the glycoprotein IIb, and subsequent restriction fragments length polymorphism analysis	50
Amplikit PAI-1
0511	Plasminogen activator inhibitor type I, -675 4G/5G Applications: Arterial and venous thrombosis, obstetrics complications	Amplification of human genomic DNA region surrounding the position 675 and subsequent restriction fragments length polymorphism analysis	50
Amplikit FIBR-B
0512	β-subunit of fibrinogen, -455 G/A	Amplification and subsequent restriction fragments length polymorphism analysis Applications: Atherosclerosis, arterial and venous thrombosis, obstetrics complications	50
Amplikit F13A
0513	A-subunit of coagulation factor XIII, Val34Leu	Amplification and subsequent restriction fragments length polymorphism analysis Applications: Arterial and venous thrombosis, obstetrics complications	50
Amplikit HAG
0514	Coagulation factor XII (Hageman factor), 46 C/T Applications: Arterial and venous thrombosis, obstetrics complications	Amplification and subsequent restriction fragments length polymorphism analysis	50
Amplikit AGT
0515	Angiotensinogen, Met235Thr Applications: Arterial hypertension, atherosclerosis, vascular disorders, obstetrics complications	Amplification and subsequent restriction fragments length polymorphism analysis	50
Amplikit ACE
0516	Angiotensin-converting enzyme (ACE), 287 bp I/D Applications: Arterial hypertension, atherosclerosis, vascular disorders, obstetrics complications	Amplification and subsequent restriction fragments length polymorphism analysis	50
Amplikit ATGR1
0517	Angiotensin II receptor type I, 1166 A/C Applications: Arterial hypertension, atherosclerosis, vascular disorders, obstetrics complications	Amplification and subsequent restriction fragments length polymorphism analysis	50
Amplikit CYP2C9
0519	Cytochrome P450 CYP2C9, 416 C/T, 1061 A/C Applications: Assessment of risk of hemorrhagic complications in patients on warfarin therapy	Amplification and subsequent restriction fragments length polymorphism analysis	50
Amplikit B27
0520	HLA-B27 antigen Applications: Assessment of risk and prognosis of seronegative arthropathies	Amplification and subsequent restriction fragments length polymorphism analysis	50