Genetic polymorphisms of human platelet antigens in Euro-African and Japanese descendants from Parana, Southern Brazil.

The frequency distributions of HPA-1 to HPA-6 and HPA-15 were evaluated in two Brazilian populations from Parana: a mixed population of predominantly Caucasians and a population of Japanese descendants. Genotyping was performed by PCR-SSP in 364 unrelated individuals. Differences in the distribution of HPA highlight diversity in Brazilian miscegenation and the importance of formation of the HPA panel composed of regional blood donors.

Frequency of RHD variants in Brazilian blood donors from Parana State, Southern Brazil.

The Rh blood group system is one of the most complex, polymorphic and immunogenic blood group systems in humans. Some individuals produce a weak or a partial D as a result of RHD and RHCE gene conversion events and RHD point mutations. Because the incidence of RHD variants differs considerably among ethnic groups, the objective of this study was to establish the frequency of blood donors carrying some weak and partial RHD, at the molecular level, in 400 blood donors from the North/Northwest of the state of Parana, Southern Brazil.

Molecular matching for Rh and K reduces red blood cell alloimmunisation in patients with myelodysplastic syndrome.

Background: Matching for Rh and K antigens has been used in an attempt to reduce antibody formation in patients receiving chronic transfusions but an extended phenotype matching including Fy(a) and Jk(a) antigens has also been recommended. The aim of this study was to identify an efficient transfusion protocol of genotype matching for patients with myelodysplastic syndrome (MDS) or chronic myelomonocytic leukaemia. We also examined a possible association of HLA class II alleles with red blood cell (RBC) alloimmunisation.

Evidence of HLA-DQB1 Contribution to Susceptibility of Dengue Serotype 3 in Dengue Patients in Southern Brazil.

Dengue infection (DI) transmitted by arthropod vectors is the viral disease with the highest incidence throughout the world, an estimated 300 million cases per year. In addition to environmental factors, genetic factors may also influence the manifestation of the disease; as even in endemic areas, only a small proportion of people develop the most serious form. Immune-response gene polymorphisms may be associated with the development of cases of DI.

Investigation of deletion of 22pb in KIR2DS4 gene in a population of southern Brazil.

Background: The aim of this study was to investigate the distribution of full-length and deleted variants of KIR2DS4 in a population of southern Brazil and compare the results with other populations, as well as comparing two techniques, PCR-SSP and PCR-SSO, for typing of variants.

Methods: 258 individuals from southern Brazil were analysed by PCR-SSO ("polymerase chain reaction-sequence specific oligonucleotides", One Lambda, Inc., Canoga Park, CA), of which 161 were also analysed by PCR-SSP.

Rh, Kell, Duffy, Kidd and Diego blood group system polymorphism in Brazilian Japanese descendants.

Polymorphisms of Rh, Kell, Duffy, Kidd and Diego blood group systems were studied in 209 unrelated Brazilian Japanese descendants from South of Brazil. The methods used were multiplex-PCR, AS-PCR and RFLP-PCR. The differences in frequencies among the populations were evaluated using chi-square test.

The association of the immune response genes to human papillomavirus-related cervical disease in a Brazilian population.

The genetic variability of the host contributes to the risk of human papillomavirus (HPV)-related cervical disease. Immune response genes to HPV must be investigated to define patients with the highest risk of developing malignant disease. The aim of this study was to investigate the association of polymorphic immune response genes, namely KIR, HLA class I and II, and single-nucleotide polymorphisms (SNPs) of cytokines with HPV-related cervical disease.

Molecular matching of red blood cells is superior to serological matching in sickle cell disease patients.

Objective: To evaluate the usefulness of DNA methods to provide a means to precisely genotypically match donor blood units for the antigen-negative type of 35 sickle cell disease patients.

Methods: Red blood cell units were investigated for ABO, D, C, c, E, e, K, Fy(a), Fy(b), Jk(a), Jk(b), S, s, Di(a) and RH variants by performing a molecular array (Human Erythrocyte Antigen BeadChip(TM), BioArray Solutions), polymerase chain reaction followed by restriction fragment length polymorphism analysis and sequencing of patient samples and donor units that had been serologically matched based on the ABO, Rh and K phenotypes and the presence of antibodies.

Results: Matches for 21 of 35 sickle cell disease patients presented discrepancies or mismatches for multiple antigens between the genotype profile and the antigen profile of their serologically-matched blood units.

Genetic polymorphisms of Rh, Kell, Duffy and Kidd systems in a population from the State of Paraná, southern Brazil.

Background: Red blood group genes are highly polymorphic and the distribution of alleles varies among different populations and ethnic groups.

Aim: To evaluate allele polymorphisms of the Rh, Kell, Duffy and Kidd blood group systems in a population of the State of Paraná

Methods: Rh, Kell, Duffy and Kidd blood group polymorphisms were evaluated in 400 unrelated blood or bone marrow donors from the northwestern region of Paraná State between September 2008 and October 2009. The following techniques were used: multiplex-polymerase chain reaction genotyping for the identification of the RHD gene and RHCE*C/c genotype; allele-specific polymerase chain reaction for the RHDψ and restriction fragment length polymorphism polymerase chain reaction for the RHCE*E/e, KEL, FY-GATA and JK alleles.

Benefits of blood group genotyping in multi-transfused patients from the south of Brazil.

We evaluated the usefulness of blood group genotyping as a supplement to hemagglutination to determine the red blood cell (RBC) antigen profile of polytransfused patients with hematological diseases and renal failure. Seventy-nine patients were selected. They all received more than three units of blood and eight (10%) had already clinical significant alloantibodies occurring alone or in combination against Rh, K, Fya, and Di antigens.

Killer cell immunoglobulin-like receptor gene diversity in a Southern Brazilian population from the state of Paraná.

Killer cell immunoglobulin-like receptors (KIR) are encoded by polymorphic genes and have as binding human leukocyte antigen (HLA) class I molecules. The aim of this study was to investigate the distribution of KIR genes and inhibitory KIR/HLA pairs in a population from Southern Brazil, in the state of Paraná, and to compare the results with results from other populations. The genotyping of 16 KIR genes and HLA class I alleles of 289 unrelated individuals was accomplished by reverse sequence-specific oligonucleotide Luminex (One Lambda, Inc.