Search PubMed⌕ Search

Biomedical subjects

G Turowski

Publications and source records attributed to G Turowski.

At least 55 records · Page 3Linked to original sources
PubMed1983

Genetic analysis of HLA in psoriasis.

The results of HLA typing in the sample of 39 families were used for the evaluation of inheritance mode in psoriasis. To discriminate between autosomal dominant and autosomal recessive models of inheritance of "disease" genes Thompson's and Bodmer's method was applied. The distributions of genotypes with HLA-B13 or HLA-B17 did not allow to differentiate between dominant and recessive inheritance pattern. Also the comparison of observed and expected numbers of sib paris sharing two, one or no HLA haplotypes was considered. The attempts to confirm dominant and recessive model in our sample failed. However, the high values of chi-square were due only to the difference among sib pairs with no common HLA haplotypes.

Gene Frequency↗
PubMed1982

Family studies in psoriasis. I. Complex segregation analysis.

The genetic background of psoriasis is unknown and its mode of inheritance is still controversial. Family studies in psoriasis were based on complex segregation analysis and a special computer programme was prepared. The results of the analysis in 244 families strongly suggest multifactorial inheritance of psoriasis vulgaris. Among the nine hypotheses of rank 1 and rank 2, the lowest value of chi-square, 72.847, was for recessive inheritance, but for the multifactorial model it was extremely low (chi-square = 35.980). The estimated heritability was 82%. It might be possible that at least two genetically distinct subpopulations of psoriasis vulgaris exist: one with multifactorial inheritance and a second with multigenic determination, if the disease were due to recessive genes and to one or more dominant factors. The theoretical recurrence risk of psoriasis for the multifactorial model was computed for families with normal parents and for families with one affected parent.

Alleles↗
PubMed1982

Family studies in psoriasis. II. Inheritance of HLA genotypes.

The study of HLA genotypes in psoriatic families attempts to probe into the genetic transmission of disease. A strong association of psoriasis with HLA antigens determined by locus B is well known, but its relationships are still unsolved. A group of 39 families, living in southern Poland and containing 19 affected parents and 52 psoriatic children, was studied. To discriminate between dominant and recessive modes of 'disease' genes inheritance, two tests were used. No significant differences were found between the observed and the expected distributions of genotypes with HLA-B 13 or HLA-B 17. The expected and the observed numbers of affected sib pairs sharing two, one or no HLA haplotypes were compatible with the proportions of 1/4, 1/2 and 1/4 in the case of independent segregation of psoriasis and HLA antigens. The results support the hypothesis of multifactorial determination of disease. The hypothetical inheritance of parental HLA haplotypes carrying 'psoriatic' genes in cis or trans positions was considered. Of nine possible combinations, two were shown graphically that resulted in offspring compatible with the observed pyenotypical expression of disease.

Female↗
PubMed1981

Lucus B HLA antigens in psoriatic patients. Population and family studies and clinical relationship.

The HLA gene and haplotype frequencies in psoriatic population (N = 136) and families (N = 47) were estimated. The significant association with HLA-B17 and B13 was found. The relative risk for these antigens was 4.4 and 2.4, respectively. The most frequent haplotypes carrying the "psoriatic" antigens was HLA-A1, B17 and HLA-A10, B17, with significant relative risk, equalled 8.24 and 5.75. The distribution of HLA-B13 and B17 phenotypes according to the three groups of clinical activity and four groups of extent of skin lesions were considered. The strong association between HLA-B17 and psoriasis with large skin involvement (more than 50%) was observed. The possible role of antigen B17 in pathomechanism of psoriasis is discussed.

Adolescent↗
PubMed1980

HLA antigens in psoriasis.

In the group (N = 136) of psoriatic patients 27 HLA antigens determined by A and B loci were identified. Phenotype, gene and haplotype frequencies were calculated and compared with the control data. A significant association between psoriasis and HLA-B13 and/or HLA-B17 was confirmed. The relative risk for these antigens amounted to 2.3 and 4.4 respectively. Among all haplotypes calculated for the psoriatic population there were only six with significant relative risk ranging from 3.1 to 27.4. Unexpectedly, the highest relative risk (27.4) was found for haplotype HLA-A9, X.

Adolescent↗
PubMed1979

Immunogenetic bases of congenital malformations: association of HLA-B27 with spina bifida.

A random sample of 46 families with single and multiple cases of spina bifida has been selected from families referred to the Institute of Pediatrics for genetic counseling. This sample constituted a group of 92 patients and 102 offspring: 41 normal, 46 with spina bifida, and 13 with spina bifida occulta. Routine HLA typing was performed on the parents and their children. For each case, 13 HLA specifities from locus A and 15 from locus B were determined. Segregation analysis in families showed excellent agreement with the expected values. HLA gene frequencies in the affected children as compared with a control population of 240 normal adults, revealed significantly higher frequency for HLA-B27 allele: chi 2 = 11.9515, P (corrected for the number of alleles) less than 0.028. A significant relative risk of spina bifida development for a given HLA-B27 antigen was 2.7. In view of the presented results, routine HLA typing might be recommended for genetic counseling as a new tool for identification of high risk families.

Chromosome Mapping↗
PubMed1979

HLA gene and haplotype frequencies in the population of southern Poland.

Results of a population study on frequencies of phenotypes and genotypes of the HLA system (locus A and B) in 240 adults, unrelated and of both sexes, living in southern Poland are reported. Frequencies of haplotypes were calculated according to Mattiuz et al. Distribution of all HLA specificities conformed with the Hardy-Weinberg law and was similar to the distribution in other white populations, except HLA-B13 which had a phenotype frequency of 14.17% and gene frequency 7%. Haplotype frequencies and positive and negative association were analogous with those in other white populations.

Alleles↗