SNP Biotechnology

Beta Thalassemia is a group of inherited autosomal recessive blood disorders that originated in the Mediterranean region. In thalassemia the genetic defect, which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin. This can cause the formation of abnormal hemoglobin molecules, thus causing anemia, the characteristic presenting symptom of the thalassemias. Beta Thalassemia Real Time PCR Kit includes, IVS1.1 (G>A), IVS2.1 (G>A), IVS1.110 (G>A), IVS2.745 (C>G), IVS1.5 (G>C), IVS1.6 (T>C), -30(T>A), Cd 5 (-CT), Cd 29 (C>T), Cd 39 (C>T), Cd 44 (-C) and HBS mutations

Cystic fibrosis (CF) is a common hereditary disease which affects the entire body, causing progressive disability and often early death. Difficulty in breathing is the most serious symptom and results from frequent lung infections that are treated, though not cured, by antibiotics and other medications. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally.

Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and polyserositis. It affects primarly people of Mediterranean, mostly non-Ashkenazi Jews, Araps and Turks. Kit analysis twenty-six mutations, which has been identified in exon 1; R42W, E84K, in exon 2; L110P, E148Q, E148V, E167D, E230K/Q, T267I, P283L, G304R, in exon 3; R354W, R408Q, P369S, in exon 5; F479L, in exon 9; I591T in exon 10; R653H, M680I (G/C-A), I692DEL, M694I, M694V, K695R, V726A, A744S, R761H. Kit is covering 99.8% mutation rate of FMF in the Anatolian, Middle East countries and many other countries

In Thrombophilia, blood has an increased tendency to form potentially dangerous clots. Hereditary defects in one or more of the clotting factors can cause to excessive blood clot formation called thrombosis. Thrombophilia Multiplex Real Time PCR Kit includes; FII Prothrombin, FV Leiden, FV 1299, FV Cambridge, MTHFR 677, MTHFR 1298, FXIII Val34Leu and PAI-1 4G/5G mutations.

Microdeletions of the Y chromosome are a recently discovered cause of spermatogenetic failure resulting in male infertility. In the last decade, many investigators have described the occurrence of microdeletions in infertile patients around the world. The molecular detection of deletions has become an important diagnostic test in male infertility studies. Four Azoospermia factors (AZFa, AZFb, AZFc and AZFd) have been mapped to Yq11, of which AZFc is the most frequent region involved in deletions.

Prothrombin is the precursor of the thrombin, a serine protease which is a key enzyme in the process of haemostasis and thrombosis with procoagulant, anticoagulant and anti fibrinolytic effects. The polymorphism in the prothrombin gene has been associated with increased risk for venous thrombosis. This polymorphism is an autosomal dominant mutation involving a single base pair substitution: a guanine to adenine substitution at position 20210 in the 3′ untranslated region of the prothrombin gene (G20210A).

A recent publication described a new mutation: FV Cambridge. Normally Factor V a (FVa) is associated with venous thrombosis and is resistance to activated C. This inactivation is due to an initial cleavage of the peptide bond on the carboxy side of Arg506 followed by a second cleavage at Arg306. FV Cambridge is a mutation leading to substitution of Arg306 with Thr (Arg306-Thr). This mutation at the 306 site was recreated in recombinant systems

The most common known genetic risk factor of venous thrombosis is resistance to activated C, which in the majority of cases is due to a single guanine-toadenine nucleotide point mutation in exon 10 of the Factor V gene. The result is an arginine replacement, at amino position 506, with glutamine (Factor V Arg506Gln or Factor V Leiden). This mutation is associated with an increased risk of deep vein thrombosis.

Inherited gene defects related to the coagulation system have been reported as risk factors for stroke. Recently, a genetic component in the factor V (FV) gene that contributes to activated protein C resistance both in the presence and absence of FV 1691 GA was reported. This highly conserved FV gene haplotype was marked as R2 polymorphism, an A to G alteration at position 4070 in exon 13 that predicts the His 1299 Arg substitutions

It has been demonstrated recently that coagulation factor XIII (FXIII) Plays an extraordinary role in myocardinal healing after infarction. Common FIII gene variants (i.e. FXIIIA-V34L) significantly influencethe molecular activity.

Methylenetetrahydrofolate reductase (MTHFR) is enzyme that play roles in homocysteine metabolism. Deficiency of the enzyme activity results in hyperhomocysteinemia and homocystinuria. A mutation in the 1298 (A-C) region of MTHFR gene, which changes glutamate into an alanine residue, decreases MTHFR activity. Together with 677 C-T mutation decrease in alanine residue has been reported to be a risk factor for neural tube defects.

Methylenetetrahydrofolate reductase (MTHFR) is enzyme that play roles in homocysteine metabolism. Deficiency of the enzyme activity results in hyperhomocysteinemia and homocystinuria. Observations indicate that increased plasma homocysteine levels caused by the MTHFR 677CT (from cytosine to thymine) were associated with a thrombosis predisposition.

A decreased fibrinolytic activity due to increased levels of plasminogen activator inhibitor-1 (PAI-1) has been shown in patients suffering deep vein thrombosis. Elevated plasma PAI-1 levels are associated with the 4G allele of a 4G/5G insertion/deletion polymorphism located in the promoter region 675 bp upstream from the transcription start sequence of the PAI-1 gene

Spinal muscular atrophy (SMA) is characterized by degeneration of the alpha motor neurons of the spinal cord anterior horn cells, leading to progressive proximal muscle weakness and atrophy. The carrier frequency of SMA from 1/20 to 1/60. The SNP SMA Plus Screening Kit detects the exon 7 deletion with C/T substitution at nucleotide 840 and exon 8 deletion in the SMN1 gene to diagnose the carrier and affected states by Quantitative Real Time PCR (qPCR) from dried blood spots (DBS) in newborn. The kit analysis homozygous people with 100 % sensitivity and 100 % specificity. In newborn screening, the carrier detection sensitivity is 100 %, while the specificity is 100 % depending on the DNA extraction system from DBS.

The JAK2 V617F mutation is an acquired, somatic mutation present in the majority of patients with myeloproliferative cancer (myeloproliferative neoplasms) i.e. nearly 100% of patients with polycythemia vera and in about 50% of patients with essential thrombocytosis and primary myelofibrosis.

Behçet’s disease is a chronic, inflammatory, multisystem disorder predominantly affecting populations of Asian, Middle Eastern and Mediterranean. With the exception of oral aphthosis, BD is characterized by considerable phenotypic variation, comprising a myriad of manifestations, e.g. recurrent genital ulcers and skin, joint, eye, vascular and/or CNS involvement. Over the last 30 years, a substantial body of knowledge has accumulated supporting a strong genetic underpinning in BD of the MHC-related allele HLA-B5, which was later more specifically linked to its predominant suballele HLA-B5 (1,2). The kit detect all subtypes of HLA B5 in the IMGT / HLA Gene FASTA 3.32.0 database with high specificity except B51:10, B51:13:01, B51:42, B51:148 and B51:220.

Behçet’s disease is a chronic, inflammatory, multisystem disorder predominantly affecting populations of Asian, Middle Eastern and Mediterranean. With the exception of oral aphthosis, BD is characterized by considerable phenotypic variation, comprising a myriad of manifestations, e.g. recurrent genital ulcers and skin, joint, eye, vascular and/or CNS involvement. Over the last 30 years, a substantial body of knowledge has accumulated supporting a strong genetic underpinning in BD of the MHC-related allele HLA-B5, which was later more specifically linked to its predominant suballele HLA-B5 (1,2). The kit detect all subtypes of HLA B5 in the IMGT / HLA Gene FASTA 3.32.0 database with high specificity except B51:10, B51:13:01, B51:42, B51:148 and B51:220.

Behçet’s disease is a chronic, inflammatory, multisystem disorder predominantly affecting populations of Asian, Middle Eastern and Mediterranean. With the exception of oral aphthosis, BD is characterized by considerable phenotypic variation, comprising a myriad of manifestations, e.g. recurrent genital ulcers and skin, joint, eye, vascular and/or CNS involvement. Over the last 30 years, a substantial body of knowledge has accumulated supporting a strong genetic underpinning in BD of the MHC-related allele HLA-B5, which was later more specifically linked to its predominant suballele HLA-B5 (1,2). The kit detect all subtypes of HLA B5 in the IMGT / HLA Gene FASTA 3.32.0 database with high specificity except B51:10, B51:13:01, B51:42, B51:148 and B51:220.

Human leukocyte antigen (HLA) B27 is a class I surface antigen encoded by the B locus in the major histocompatibility complex (MHC) on chromosome 6. HLAB27 is associated with ankylosing spondylitis (AS), and other associated inflammatory diseases referred to as “spondyloarthritis” (1,2). The kit detect all subtypes of HLA B27 in the IMGT / HLA Gene FASTA 3.32.0 database with high specificity except B27:07:01, B27:07:04, B27:24, B27:32 and B27:70