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B Turowska

Publications and source records attributed to B Turowska.

At least 19 recordsLinked to original sources

Frequency data on the loci vWA, FES/FPS, F13A01, TH01, TPOX and CSF1P0 in a population from South Poland.

Allele and genotype frequencies for six short tandem repeat (STR) loci were determined in a sample of 124 inhabitants from South Poland with commercial PCR-based typing kits. No deviations from Hardy-Weinberg expectations were found. The combined power of discrimination for the six loci was 0.9999982. There was no genotypic disequilibrium between the loci except for vWA and F13A01. The set of PCR loci was validated as useful for paternity testing and individual identification in the Polish population.

Alleles↗

Data on the loci LDLR, GYPA, HBGG, D7S8 and GC in a south Polish population.

Allele and genotype frequencies were determined in a sample of 102 inhabitants from South Poland with a commercial PCR based typing kit. No deviations from Hardy-Weinberg expectations were found. The combined power of discrimination for the five loci was 0.994. The systems did not show any allelic association between loci. The polymarker set was validated as useful for paternity testing and individual identification in a Polish population.

Alleles↗

D1S80 VNTR locus genotypes in population of south Poland; meta-analysis pointer to genetic disequilibrium of human populations.

A highly variable number of tandem repeats (VNTRs) in a human locus D1S80 can prove to be useful for forensic science purposes. As with other genetic polymorphisms, a database of a local population allelic frequencies is needed to ensure that no departure from genetic equilibrium exists. DNA from the locus D1S80 was amplified by polymerase chain reaction (PCR) and analyzed by horizontal PAGE followed by silver staining. Samples from 133 unrelated inhabitants of Southern Poland were examined. The amplified fragment length polymorphism (AMP-FLP) analysis of the D1S80 locus demonstrated 21 alleles and heterozygosity of 0.85%. Out of the 231 possible genotypes, 47 were observed. The results were compared to the published D1S80 population studies and a meta-analysis of the genotype frequencies was performed. The G statistics revealed a deviation from genetic equilibrium in the Spanish population. Replicated goodness of fit tests showed highly significant heterogeneity of genotype distribution between tested populations. Therefore, interpretation of the casework on the basis of D1S80 locus typing may be biased by interpopulation differences.

Adult↗

[Genetic markers and congenital cataract].

In this work an attempt has been made to analyze the relationship between genetic markers and the occurrence of congenital cataract in children. The study included 32 families with 66 children in whom various clinical forms of congenital cataract had been diagnosed. In all examined patients, genetic markers such as ABO, MN, Rh systems, Gm1 factor, acid phosphatase (ACP1), esterase D and haptoglobin group were determined. The results were compared with the control population. It was found that the frequency of occurrence of heterozygote phenotype Hp 2-1 is higher in families with congenital cataract with simultaneous decrease of the frequency of occurrence of homozygote Hp 2-2. The obtained data were compared with those of other authors.

Adult↗

Rare alleles of phosphoglucomutase (PGM1) in the Polish population.

Phenotypes of the erythrocyte enzymes phosphoglucomutase (PGM1) were determined by horizontal starch gel electrophoresis in south part of Poland. The gene frequencies were calculated: PGM1(1) = 0.73526, PGM2(1) = 0.26349, PGM3(1) = 0.00031, PGM4(1) = 0.0001, PGM6(1) = 0.00016, PGM8(1) = 0.00063, PGM8(1) = 0.00005 and compared with populations of different regions of Poland.

Erythrocytes↗