Biomedical subjects

C Zekanowski

Publications and source records attributed to C Zekanowski.

25 records · Page 2Linked to original sources

PubMed1990

Detection of potato spindle tuber viroid (PSTV) in dormant potato tubers by concatameric cDNA probe.

The 32P-labelled concatameric insert cut out from a plasmid pSPAv6.2(+), containing 6.2 copies of a full-length PSTV, was used to detect PSTV in dormant potato tubers by dot-blot hybridisation assay. The concatameric insert probe was 4 times more sensitive than the monomeric one. This allowed the detection of 0.5 pg of viroid RNA. The sensitivity makes th eoligomeric cDNA probe a useful alternative to cDNA probes.

DNA Probes↗

PubMedDate not supplied

[Mutations causing hereditary hyperphenylalaninemia].

Mutations in the genes encoding different parts of phenylalanine hydroxylation system cause persistent hyperphenylalaninaemia. The most frequent form of hyperphenylalaninaemia is caused by mutations in the PAH gene. The most common variant result from defect of tetrahydrobiopterin synthase. Mutations in the PAH and PTS genes in the Polish population are presented. Genotype--phenotype correlations are discussed.

Biopterins↗

PubMedDate not supplied

[Chronic granulomatous disease].

Chronic granulomatous disease (CGD) is characterized by severe, protracted and often fatal infections, which results from a failure of the NADPH oxidase enzyme system in the patient's phagocytes to produce reactive oxygen species (ROS). The NADPH oxidase enzyme is a system composed of a number of interacting cytosol and membrane components. The absence of any of the components causes failure of the system. Mutations in the genes coding various parts of the oxidase system cause CGD.

Animals↗

PubMedDate not supplied

[Molecular diagnosis of inherited disease].

The ability to detect mutations in nucleic acids sequence is of fundamental importance in medical molecular genetics. The aim is to link mutations of identified genes to particular disease phenotypes and to facilitate rapid, molecular diagnosis. There are numerous techniques described for screening unknown mutations, and for diagnosing those which have been identified previously. Each method offers different advantages and has its own limitations.

Genetic Techniques↗

PubMedDate not supplied

[Molecular diagnosis: principles, tasks and purposes].

Molecular diagnosis is a relatively young discipline and also one of the most dynamic among clinical laboratory sciences. Molecular genetic diagnosis is the detection of pathogenic mutations in DNA and RNA samples prepared from at-risk patients. The paper reviews some problems connected with molecular technicqes, organization of a reference laboratory and quality assurance system.

Accreditation↗

PubMedDate not supplied

[In search of genetic determinants of obesity].

Common obesity is a multifactorial trait that lies at the interface between the biology of body energy regulation and the environment. Obesity involves genetic predisposition but also metabolic, hormonal, behavioural, social and cultural aspects. According to some estimates 40 to 70 percent of the variation in obesity-related phenotypes is heritable. Mutations in a single gene cause only about 5% of cases. The number of genes and markers associated or linked with human obesity is more than 200. Interactions between multiple genes, environment and human personality, make the search for obesity-related genes especially challenging.

Animals↗

PubMedDate not supplied

[Molecular diagnosis of lymphomas and leukaemias].

In the last years molecular diagnosis has become a routine method m the evaluation of haematological malignancies. Various techniques are used to assess B- and T-cell clonality, chromosomal rearrangements involving protooncogenes, monitoring of minimal residual disease as well as genome wide scanning methods such as comparative genomic hybridization or spectral karyotyping. The review explores some avenues in which molecular techniques can affect patient's retrospective and prospective diagnosis. The major advantages and disadvantages of some of these techniques are described and their place in the scheme of diagnosis and treatment is briefly summarised.

Gene Rearrangement, B-Lymphocyte↗