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Biomedical subjects

A Reis

Publications and source records attributed to A Reis.

At least 199 records · Page 11Linked to original sources
PubMed1992

Band-specific localization of the microsatellite at D13S71 by microdissection and enzymatic amplification.

Microsatellite DNA consists of tandemly repeated simple DNA sequence motifs, the number of these repeats being polymorphic. These recently described polymorphisms are ubiquitously distributed throughout the human genome and are highly informative, making them ideal markers for linkage analysis. Physical localization of these microsatellites is an important prerequisite for aligning physical and genetic maps. We have physically mapped the microsatellite at D13S71, which has previously been assigned to chromosome 13. Band-specific mapping of D13S71 to the distal part of band 13q32, near 13q33, was achieved by microdissection of GTG-banded chromosomes and subsequent enzymatic amplification with a heminested PCR approach. Analysis of a panel of somatic cell hybrids confirmed this localization. The technique presented may also be useful in a variety of complex mapping situations and whenever the precise localization of very small (as small as 70 bp) DNA probes is necessary.

Base Sequence↗
PubMed1991

Genotype-phenotype correlations in cystic fibrosis patients.

Genetic and biomedical data from 346 cystic fibrosis patients of German origin have been evaluated. We demonstrated an age dependent distribution of CFTR genotypes, and confirmed the previously reported association between the dF508 mutation in the CFTR gene and pancreatic insufficiency. However 3 out of 22 pancreatic sufficient patients were dF508 homozygous. When patients were grouped with respect to height development, significant differences were seen in the distribution of J3.11-MspI alleles. We conclude that genetic determinants in and around the CFTR gene contribute to the variability in the clinical course of the disease.

Adolescent↗
PubMed1991

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC. At present, he shows severe muscular hypotonia and developmental delay. The patient and his family were referred to us for prenatal diagnosis and carrier testing in the mother of the patient and the mother's sister, respectively. The patient's DNA was examined by Southern blot and polymerase chain reaction analyses, using cDNA and genomic probes within and around the dystrophin (DYS) locus. A deletion was revealed, spanning DXS28, the whole dystrophin locus, DXS84 and DXS148, whereas DXS67, DXS68 (pter) and OTC (cen) were found to be retained. The cytogenetically visible microdeletion was also seen in the patient's mother, but not in the mother's sister or the patient's maternal grandmother. Our findings support the locus order pter-DXS67-DXS68-DXS28-AHC-GK-DMD-cen.

Adrenal Insufficiency↗
PubMed1991

Association of major histocompatibility complex class III complement components C2, BF, and C4 with Brazilian paracoccidioidomycosis.

A genetic influence of the major histocompatibility complex (MHC) on the susceptibility and the development of the different clinical forms of paracoccidioidomycosis (PCM) has been postulated. In the present investigation allotypes of MHC-coded class III gene products (complement components C2, BF, C4A, and B) were determined in 69 Brazilian PCM patients and 225 healthy control individuals matched for ethnic and geographic origin. The frequency of the non-expressed C4B allele (C4B*Q0) was significantly elevated in comparison to the controls (p less than 0.01; Fisher's exact test). Three out of 69 patients had a complete C4B deficiency as against 2 among 223 control individuals. The C4A*Q0 allele was also more frequent in the patients. Other C4 alleles were not seen to differ between the two groups. The analysis of BF allotypes showed a non-significant predominance of the rarer allele BF*S07 in the patients, whereas no difference in the distribution of C2 alleles was seen. The data on MHC class III association may support the hypothesis of immune response modulation in PCM and suggest a functional genetic role of complement action against the fungus and in the outcome of PCM infection. We conclude that MHC class III products, especially C4B*Q0, are associated with chronic uni- or multifocal PCM and may influence the course of the infection.

Adolescent↗
PubMed1990

Cloning and sequence analysis of the human parathyroid hormone gene region.

A region of 50 kb around the human PTH gene was cloned and mapped by restriction analysis. Sequence analysis was performed and 3270bp determined, completing the sequence of the gene. The nucleotide sequence was analysed with regard to homology between human, bovine and rat PTH genes, and various potential cis-acting regulatory elements were identified. The gene region lacks an obvious CpG island. The PTH gene region in patients suffering from (pseudo)-hypoparathyroidism was investigated by Southern blotting. No detectable alteration in the fragment patterns was observed. Results of segregation analysis in families with affected individuals was inconclusive.

Animals↗
PubMed1990

Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.

This study analyses distribution patterns of the delta F508 mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) gene and the cystic fibrosis (CF)-linked marker loci MET, D7S23, D7S399, and D7S8 in a sample of 167 (116 complete) CF families from Bohemia and Moravia (Czechoslovakia). DNA typing was performed by polymerase chain reaction amplification, restriction analysis, and agarose or polyacrylamide gel electrophoresis. The frequency of the delta F508 mutation in this sample is 67% and the frequency of the B haplotype is 77.6% on CF chromosomes. Linkage disequilibrium was found between delta F508 and all markers tested.

Chromosome Deletion↗
PubMed1990

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.

We have measured the frequency of the delta F508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the delta F508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype.

Cystic Fibrosis↗
PubMed1990

[Shaping of electron radiation fields using homogeneous absorbent materials].

Proof of shielding and forming by absorbers was done in water phantom dosimetrically. Alterations of isodose course were measured in dependence of primary energy, as well as of thickness and density of the absorber materials. Piacryl or aluminium are not suitable for forming of irregular electron fields. They only effect a reduction of therapeutic range. For primary energies of 10.0 less than or equal to MeV less than or equal to E0- less than or equal to 20.0 MeV lead rubber and wood metal are to recommended in a thickness of less than or equal to 10 mm or less than or equal to 8 mm respectively.

Electrons↗
PubMed1989

Porencephalic cyst in pycnodysostosis.

We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure.

Adult↗
PubMed1984

Comparison of Dioptron Nova refractive data with conventional refractive data.

Refractive data obtained by means of the Dioptron Nova Diagnostic Eye Computer were compared to data obtained by conventional clinical refraction on a group of 236 clinic patients. Spherical equivalent power data were found to average -0.32 D more for Dioptron Nova data than for clinical data, whereas spherical power data averaged -0.25 D more for Dioptron Nova data than for clinical data, and cylinder power averaged -0.12 D more for Dioptron Nova data. Dioptron and clinical data were found to be within +/- 0.50 D of each other for 74% of eyes for spherical equivalent power, for 83% of eyes for spherical power, and for 91% of eyes for cylinder power. Cylinder axis data were found to be within +/- 10 degrees for the two methods for 78% of eyes.

Accommodation, Ocular↗
PubMed1977

[Effect of air-electric fields on driving and reaction patterns. Test subjects in the car driving simulator (author's transl)].

In the relevant frequency range of about 10 Hertz cars can be considered very largely as Faraday cages and consequently as screens against air-electric fields. This may have a negative influence on driving and reaction patterns as a result. In an extensive investigation 48 subjects in a driving simulator were exposed to definite artificially produced air-electric fields. The self-rating of the performance and concentration of the subjects, reaction times and driving errors were determined. While the reaction times remained practically constant, the driving behavior of the subjects improved.

Adolescent↗