[The type and frequency of mutations in CFTR gene occurrence in patients with cystic fibrosis in Poland--implication of results obtained from genetic counseling and diagnostic screening]. / Rodzaj i czestosc wystepowania mutacji w genie CFTR u chorych na mukowiscydoze w Polsce--znaczenie wyników badan dla poradnictwa genetycznego i badan przesiewowych.

Results of the study on mutations in the CFTR gene in Polish population were presented. Among 19 studied only 6 mutations were identified, and its frequency established. Molecular study as a routine diagnostic procedure in cystic fibrosis is proposed.

[A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients]. / Próba oceny zaleznosci pomiedzy fenotypem a genotypem wsród 65 chorych na mukowiscydoze.

Among 65 CF diagnosed patients with both CFTR gene mutations known genotype-phenotype studies were performed. Correlation between pancreatic insufficiency and so called "severe mutations" was found. Respiratory tract symptoms do not seem to depend on one specific mutation as well as meconium ileus is not only limited to the group of patients with delta F508/delta F508 genotype. Some other genotype - clinical features correlation in CF patients are discussed.

[Use of molecular DNA probes in the diagnosis of mucoviscidosis-- analysis of restriction fragment length polymorphisms (RFLP) in 22 high-risk families]. / Zastosowanie sond molekularnych DNA w diagnostyce mukowiscydozy--analiza polimorfizmu dlugosci fragmentów restrykcyjnych (RFLP) w 22 rodzinach wysokiego ryzyka.

The results of DNA analysis with the aid of specific molecular probes are discussed. DNA analysis involved 22 families of a high risk of cystic fibrosis. A significance of the obtained results in genetic counselling is also discussed. DNA analysis enabled detection or exclusion of cystic fibrosis gene carrier state in patient's relatives. DNA analysis proved fully informative in case of 17 families being a base to offer these families prenatal diagnosis of the disease in the I trimester of pregnancy, if such a family plans conception, and to accept this diagnostic technique.

Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations.

We analyzed DNA from 34 Polish and 63 Dutch cystic fibrosis (CF) patients and their families using the polymorphic markers XV2c and KM19, which are in linkage disequilibrium with the CF mutation. Strong linkage disequilibrium was found in the Dutch population sample, but the haplotypes of the Polish chromosomes showed a significantly less extreme disequilibrium. Our data and previous studies indicate that the highest degree of homogeneity of the CF defect and hence the best possible use of the XV2c/KM19/CF linkage disequilibrium for CF carrier detection/exclusion is in populations of northern European origin.

[Study of DNA restriction fragment length polymorphism in the diagnosis of mucoviscidosis]. / Badanie polimorfizmu fragmentów restrykcyjnych DNA w diagnostyce mukowiscydozy.

DNA analysis was used to determine heritability of the cystic fibrosis in the family in risk of this disease. It enabled to detect carriers of the cystic fibrosis gene in the examined family and created a basis of the early prenatal diagnosis in case of the planned pregnancy.

Carpal tunnel syndrome in children with mucopolysaccharidoses: needs for surgical tendons and median nerve release.

This report analyzes the clinical and electrophysiological results of the carpal tunnel release operation in mentally retarded children with mucopolysaccharidoses and discusses the needs for early surgical intervention.

Two cases of cholesteryl ester storage disease (CESD) acid lipase deficiency.

The deficiency of lysosomal acid lipase is expressed in two phenotypes: Wolman's disease and cholesteryl ester storage disease (CESD), which is more benign and rare. We report two cases of cholesteryl ester storage disease; we emphasize the clinical heterogeneity and present the EM picture of the conjunctiva with cholesteryl esters stored in the lysosomes.

Clinical and biochemical diagnostics of Niemann-Pick disease.

Niemann-Pick disease (NPD) is an inherited lysosomal storage disorder characterised biochemically by a deficiency of sphingomyelinase activity and massive accumulation of undegraded sphingomyelin. There are three main clinical types of the disorder (NPD type A, B and C). NPD type A and B is diagnosed biochemically on the basis of measuring sphingomyelinase activity in leukocytes or cultured fibroblasts. The diagnosis may be established with the chromatographic method by the high level of sphingomyelin concentration in liver samples. Because in NPD type C the decrease of sphingomyelinase activity is moderate and only occurs in fibroblasts the thin-layer chromatography of the total liver lipid extracts is necessary for establishing the diagnosis. The thin-layer chromatography of the total liver lipids is sufficient for the diagnosis of all types of NPD.

Amniotic tissue transplantation as a trial of treatment in some lysosomal storage diseases.

This communication reports the clinical and biochemical results in six patients: four with mucopolysaccharidosis, one with GM1 gangliosidosis (Morquio B) and one with I-cell disease, who were treated by amniotic tissue transplantation. The sole evident clinical result was the diminishing of corneal clouding in three cases. A slight increase of beta-galactosidase activity in one patient's plasma was observed. The time of improvement was about 2 months after the transplantation and was transitory.

Single-stranded fraction of deoxyribonucleic acid from Bacillus subtilis.

About 13% of the deoxyribonucleic acid (DNA) of various strains of Bacillus subtilis, independent of the stage of growth or competence for transformation, was rendered acid soluble by endonuclease S1. In a pH 11.2 CsCl gradient, 4% of the untreated DNA banded at the density typical for single-stranded molecules, whereas 9% of the remaining DNA (main band) was sensitive to endonuclease S1. Selective inhibition of DNA polymerase III, or of DNA-dependent ribonucleic acid polymerase, did not increase or abolish single-strandedness. The DNA purification procedure did affect the level of single-stranded DNA, indicating its binding to cell constituents containing ribonucleic acid, protein, and membranous material. The molecular weight of the single-stranded fraction resembled that of total denatured DNA, and its buoyant density in an alkaline CsCl gradient was centered partially at a density of 1.772 g/cm3 and partially at a density of 7.759 g/cm3. Incubation of DNA under conditions leading to renaturation of its single-stranded fraction led to an increase in transforming activity for the purA16+ marker (close to the origin of replication) relative to leu-8+ and metC3+ markers (located in the middle of the chromosome), indicating this region is the main source of the single-stranded fraction.

Allele specific and locus non-specific suppressors in Aspergillus nidulans.

Using N-methyl-N'-nitro-N-nitrosoguanidine, ultraviolet irradiation, ethyl methanesulphonate or 4-nitroquinoline-1-oxide mutagenesis and an enrichment method for the isolation of auxotrophs, 25 mutants with defects in the adA locus were obtained after screening 41,376 colonies. One of these, adA24, did not complement with any of the other adA mutants, had a very high reversion rate and had some other properties which usually characterize strains carrying nonsense mutations. All revertants of adA24 carried dominant suppressor mutations. A group of adA24 suppressors was tested for allele and locus specificity. They were found to suppress only some adA alleles, and at the same time, some mutations in the methG, methH, argB and proA loci. It is proposed that the allele specific and locus non-specific adenine suppressors are suppressors of nonsense mutations.

Supersuppressors in Aspergillus nidulans.

Simultaneous reversion of mutations in two different Aspergillus nidulans loci adA and metG was found to be due monogenic suppressor mutations. Preliminary evidence for the existance of supersuppressors in A. nidulans is presented.