HLA-C locus alleles distribution in patients from northern Poland with psoriatic arthritis--preliminary report.

The aim of the study was to compare the frequency of human leucocyte antigen-C (HLA-C) locus alleles in patients with psoriatic arthritis and in healthy controls in the same ethnic group in Poland, and to correlate them with age of onset of psoriatic skin changes and joints symptoms. HLA-C locus alleles of 41 patients and 80 controls were determined by a polymerase chain reaction (PCR) low-resolution method. The Cw*06 allele occurred more frequently (P adjusted for multiple comparison = 0.004) in patients with psoriatic arthritis than in controls. Patients who carried the HLA-Cw*06 allele had a significantly earlier mean age of onset of both psoriasis (P = 0.01) and arthritis (P = 0.008) compared with Cw*06-negative patients. Our results confirm the association between Cw*06 allele and psoriatic arthritis in the northern Poland population and suggest that the HLA-Cw*06 may determine not only the disease susceptibility, but also the age of onset of psoriatic arthritis.

Polish population study on Y chromosome haplotypes defined by 18 STR loci.

Polymorphism of 18 STR loci specific to the human Y chromosome (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS426, DYS437, DYS438, DYS439, DYS460, GATA H4.1, DYS385 a/b, and YCAII a/b) was evaluated by means of a multiplex (octadecaplex) PCR reaction and capillary electrophoresis in a Polish population sample of 208 unrelated males. A total of 192 different haplotypes and 183 unique haplotypes were identified. The observed haplotype diversity was 0.998, while discrimination capacity was 92.3%. DYS389 was shown to be the most valuable in discrimination of similar haplotypes, whereas DYS388, DYS393, DYS426, and DYS438 did not affect the discrimination power of the multiplex.

Northern Polish population data and forensic usefulness of 15 autosomal STR loci.

Allele frequencies for the 15 STR loci in the AmpF/STR Identifiler kit (Applied Biosystems): D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, and FGA were determined in a sample of 145 unrelated individuals living in the northern part of Poland. The values of heterozygosity, polymorphic information content (PIC), power of discrimination (PD), power of exclusion (PE), paternity index (PI) and matching probability (pM)were calculated.

Analysis of DQB1 allele frequencies in pulmonary tuberculosis: preliminary report.

BACKGROUND: The human leucocyte antigen (HLA) system plays an important role in the modulation of the immune response. An association between HLA and pulmonary tuberculosis (TB) has been examined in several populations but the results have been inconsistent. The aim of this study was to evaluate the correlation of DQB1 alleles with TB patients and healthy controls in the same ethnic group in Poland. METHOD: The DQB1 alleles of 38 patients with TB and 58 healthy university staff volunteers were determined by a PCR-SSP low resolution method. RESULTS: The DQB1*05 allele occurred more frequently (p adjusted for multiple comparison=0.002, OR=2.84, 95% CI 1.57 to 5.15) and the DQB1*02 allele occurred less frequently (p=0.01, OR=0.39, 95% CI 0.21 to 0.71) in patients with TB than in controls. The occurrence of DQB1*03,*04,*06 alleles was similar in the two populations. CONCLUSIONS: The occurrence of specific DQB1 alleles may be linked to susceptibility/resistance to tuberculosis.

HLA-A, B, C antigens in pulmonary sarcoidosis in Polish population.

The aim of this study was to analyze association between HLA class I antigens and sarcoidosis in Poland. HLA-A, B, C antigens in a group of 100 patients suffering from sarcoidosis and in a group of 100 healthy blood donors were determined. Histocompatibility typing was performed by the NIH method using commercially available sera. For statistical analysis chi2 test was used after Yates' correction. The relative risk was calculated by Woolf's method. We found that HLA-B8 and -Cw7 prevalence was significantly higher in patients with sarcoidosis than in healthy controls. HLA-B35, -B40, -Cw2 and -Cw4 antigen expression was significantly lower in pulmonary sarcoidosis than in the tested group of healthy individuals. The highest relative risk of sarcoidosis was connected with HLA-B8 and -Cw7. The results obtained suggest that, in the population suffering from pulmonary sarcoidosis in nothern Poland, as compared with the control group of healthy persons, antigens HLA-B8 and -Cw7 are significantly more frequent. It can be assumed that, the presence of these antigens may be connected with a greater risk of pulmonary sarcoidosis. In the group of patients, as compared with the control population, the occurrence of antigens HLA-B35, -B40, -Cw2 and -Cw4 is significantly more rare.

Psoriasis vulgaris with the early and late onset--HLA phenotype correlations.

The purpose of the study was to classify psoriasis vulgaris basing on HLA phenotype and the age of onset of the disease. One hundred fifteen psoriatic patients were included into the study and divided into two groups: group I--with early onset (< 40 years) and group II--with late onset (> or = 40 years). Each group was subclassified according to Cw6 antigen expression: IA-Cw(6+)--early onset, IB-Cw(6-)--early onset, IIA-Cw(6+)--late onset, IIB-Cw(6-)--late onset. HLA class I antigen typing was performed in each of 115 subjects using the microlymphocytotoxicity test. HLA class II antigen typing was also performed in 20 randomly selected patients by means of the two-step microlymphocytotoxicity test. The occurrence Cw6, B13, B17 antigens was significantly increased in psoriatic groups in comparison with a control population. No difference between the groups was found with respect to class II antigen frequency. Cw6, B13 and B17 were the most specific markers for psoriasis with the early onset, whereas B27, Cw2, B44 and Cw5 seemed to be associated with the late type of the disease.

[Hypertrophic cardiomyopathy occurring in the family. Rare coexistence with oligophrenia. Clinical examinations, cytogenetic and HLA system]. / Kardiomiopatia przerostowa wystepujaca rodzinnie. Rzadkie polaczenie z oligophrneia badania kliniczne, cytogenetyczne oraz ukladu HLA.

Familial hereditary ventricular hypertrophy (HCM) is classified as a genetically determined disease (autosomal dominant trait) characterized by generalized ventricular hypertrophy, specific heart sounds and echocardiography images, characteristic ECG changes. Sudden death occurs in some cases. Clinical data and laboratory findings in a family of twelve, in which three brothers (aged 17, 21 and 25) displayed typical features of hypertrophic cardiomyopathy, are presented. In addition to the HCM symptoms, all brothers displayed unique, characteristic phenotype: long upper and lower extremities, microcephaly and different in degree mental retardation. Echocardiography and Holter monitoring revealed types III and IV (according to Maron's classification) with complex ECG disturbances. In other members of the family the following changes were found: supra and ventricular arrhythmias appeared in the ECG of the mother (45 years old) in the forth decade of her life and ST disturbances ("silent ischaemia") in the ECG of the father (44 years old). Arrhythmias were present in the father's brother and sister, but without any clinical signs of HCM. Cytogenetic analysis was performed on the peripheral blood lymphocytes derived from the mother and all her sick sons--the karyotypes were normal. Additional cytogenetic studies detecting the presence of chromosome fra (16) were negative. Analyses of the HLA antigens were performed on 13 members of the three generations in the family. The HLA antigens of classes I-A, B and C were identified and results suggest some linkage between HCM and B12 (44) antigen. To our knowledge, the present study provides the first description of a family displaying simultaneously ventricular hypertrophy and a specific phenotype with mental retardation.

Polymorphism of isoenzymes in preserved muscle tissues.

In muscles preserved in formalin enzymes were not found to be active. In muscles treated by ethanol the ESD, GLO, GPT and PGP enzymes were active. The best results were obtained in the case of acetone treatment. The phenotypes ESD, GLO, GPT and PGP in tissues corresponded with the ones in the comparative blood samples.

[Rare PGM1 (6) and PGM1(7) alleles in the Polish population]. / Seltene PGM1(6) und PGM1(7) Allelen in der polnischen Population.

Rare PGM1 phenotypes, 6-1, 6-2 and 7-2, were detected in blood samples from 3,437 non-related adults using electrophoresis in starch-gel and cellulose acetate membranes. Frequencies of 0.0009 and 0.0008 were calculated for PGM1(6) and PGM1(7), respectively, for a population from northern Poland. The variants had been inherited, which was confirmed by family studies.