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DNA Laboratory

In the DNA laboratory of the Blood Transfusion Center we perform testing of HLA, HPA and testing of some blood systems, such as ABO, Rh, Kell, Kid, Duffy method for PCR - SSP (polymerase chain reaction with sequence-specific primers).
HLA system (Human Leukocyte Antigens) is tested in patients with renal failure who are enrolled in the transplantation program. HLA typing is also performed in leukemia patients and their relatives within the framework of the family study (parents, siblings). For the needs of the Transplantation Center of the UHO we standardize the organ donors as either cadaverous or living donors – kidney as a paired organ can be donated.

Finally, for patients with autoimmune disease which presupposes a relation with the HLA system, we test the presence of a particular HLA allele. For instance, the celiac disease is associated with DQB1 * 0201, narcolepsy with DQB1 *0602.

 It makes sense to test the HPA system of platelets (Human Platelet Antigens) in a family with suspected feto-maternal alloimmune thrombocytopenia – a reduced number of platelets in the newborn child due to the mother’s alloimmunization to the fetal platelets. The reason is a disagreement between HPA antigens of the mother and the fetus. HPA typing of the mother helps together with the examination of platelet antibodies in the mother's serum for the diagnosis conclusion.

 Blood group systems are routinely investigated serologically. However, in certain cases it is necessary to perform the investigation at the DNA level: with the newborns until antigens on blood cells are exprimated, in patients with AIHA (Autoimmune Hemolytic Anemia in the Absence), or to resolve a weak or variant RhD antigen.
The second groups of investigations in the DNA lab are the thrombophilic mutations. We use two methods: PCR-ASA (PCR with allele specific primers) and real time PCR.

 The FV Leiden (G1691A) is considered the most widespread and most significant trombophilic mutation and it is a congenital cause in about 40% of thromboses. The relative risk of thrombosis in FV Leiden homozygotes is increased 80 times, 8 times in heterozygotes. In the second place, in terms of significance, is the prothrombin mutation (G20210A). Prothrombin heterozygous mutations have a four times higher risk of thrombosis.

There are two point mutations in the gene for methylentetrahydrofolate reductase (MTHFR C677T, A1298C). Their presence in the gene leads to thermolability of the encoded enzyme. MTHFR is one of the enzymes of methionine metabolism and it is expected that a mutated form of MTHFR may cause disturbances in methylation of homocysteine into methionine. Increased homocysteine levels (above 12 M / l) are considered an independent risk factor for thrombosis in arterial and venous bloodstream. In homozygotes, around 2.5 times higher risk of thrombosis is predispossed.

The last available mutations testing involves testing for a polymorphism 4G/5G in the gene for plasminogen activator inhibitor (PAI-1). The 4G/4G homozygous form leads to increased levels of PAI-1 and thereby to a reduced activation of fibrinolysis. With the 4G/4G polymorphism carriers there is about two times higher risk of myocardial infarction.
The DNA laboratory performs testing for paternity disputes -11 STR systems and 1 VNTR system.