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At least 739 records · Page 41Linked to original sources
PubMed1987

DNA analysis of breast tumour fine needle aspirates using flow cytometry.

Cellular DNA was analysed by flow cytometry in fine needles aspirates (FNA) from both benign and malignant breast lesions in order to determine the feasibility of flow cytometric analysis. In 22 of 26 (84%) benign and 69 of 74 (93%) malignant aspirates, sufficient cells were present to produce good quality DNA histograms. DNA in all 22 benign lesions was diploid. In contrast, of the 69 cancers with sufficient cells for analysis, 40.6% had a diploid DNA content alone, whilst 59.4% had an additional DNA aneuploid line. These results indicate that the majority of FNAs provide sufficient material for flow cytometric analysis of DNA profiles. Such aspirates taken in a sequential manner may also prove to be an ideal method of studying tumour response to therapy.

Adult↗
PubMed2004

[Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)].

BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial cytopathy presenting with ptosis and external ophthalmoparesis. Mitochondrial disorders are characterized by a broad clinical spectrum and genetic background with marked genotype/phenotype variability. The routine diagnostic work-up usually includes clinical and laboratory examinations as well as histological and histochemical analysis of skeletal muscle biopsy. In our case only an additional molecular biological examination allowed the diagnosis of CPEO. PATIENT AND METHODS: We report a 35-year-old woman with a 7-years history of slowly progressive diplopia due to impaired ocular motility and bilateral ptosis. We performed ophthalmological and neurological examinations, laboratory testing, lower limb skeletal muscle biopsy including histological and histochemical investigations, biochemical analysis of respiratory chain enzymes in skeletal muscle homogenate and molecular genetic testing of skeletal muscle DNA. RESULTS: Although clinical, laboratory, histological and biochemical analyses did not give any hints suggesting a mitochondrial cytopathy, molecular genetic testing of total DNA from skeletal muscle tissue by Southern blot analysis finally revealed a 3.8 kb mitochondrial DNA deletion with a degree of heteroplasmy of 45 %. CONCLUSIONS: In patients with unexplained binocular diplopia , oculomotor deficits and/or acquired ptosis, an underlying mitochondrial cytopathy should be considered. Even in the case of inconspicuous skeletal muscle histology and biochemistry, molecular genetic testing of skeletal muscle DNA is advisable in order to establish the diagnosis.

Adult↗
PubMed1991

Kinetoplast DNA analysis of four Trypanosoma evansi strains.

Kinetoplast DNA (kDNA), the mitochondrial DNA of trypanosomes, is a network of thousands of topologically interlocked DNA minicircles and about 50 maxicircles. In this study, we have analysed the kDNA molecules of 6 strains of Trypanosoma evansi from different geographical areas. 2 strains were found to be dyskinetoplastic mutants and other 4 kinetoplastic strains absent of maxicircles. The electrophoretic analysis of the minicircles digested with various restriction endonucleases clearly shows that all of the kinetoplastic strains lack profound minicircle heterogeneity typical of T. brucei. However, a slight restriction fragment length polymorphism could be observed with 2 enzymes (Dde I and HinfI) within the minicircle population of each cloned strain. We propose that this sequence diversity is the result of point mutations. Further analysis of the minicircles by nucleotide sequencing revealed that the 4 minicircles of T. evansi strains share extensive regions of homology with each other but only about 50% homology with other species. This homogeneity of T. evansi minicircle sequences may provide a useful tool for classification and identification.

Animals↗
PubMed1986

A general DNA analysis program for the Hewlett-Packard Model 86/87 microcomputer.

A program is described to perform general DNA sequence analysis on the Hewlett-Packard Model 86/87 microcomputer operating on 128 K of RAM. The following analytical procedures can be performed: 1. display of the sequence, in whole or part, or its complement; 2. search for specified sequences e.g. restriction sites, and in the case of the latter give fragment sizes; 3. perform a comprehensive search for all known restriction enzyme sites; 4. map sites graphically; 5. perform editing functions; 6. base frequency analysis; 7. search for repeated sequences; 8. search for open reading frames or translate into the amino acid sequence and analyse for basic and acidic amino acids, hydrophobicity, and codon usage. Two sequences, or parts thereof, can be merged in various orientations to mimic recombination strategies, or can be compared for homologies. The program is written in HP BASIC and is designed principally as a tool for the laboratory investigator manipulating a defined set of vectors and recombinant DNA constructs.

Amino Acid Sequence↗
PubMed1995

Virulence of Aspergillus fumigatus strains investigated by random amplified polymorphic DNA analysis.

A possible relationship between the ability of Aspergillus fumigatus strains to invade tissues and genetic polymorphism was studied by random amplified polymorphic DNA (RAPD) analysis. One hundred randomly designed oligonucleotide decamers were examined with DNA of three reference strains, eight environmental isolates and 21 isolates from two distinct clinical situations: non-invasive aspergillosis (predominantly aspergilloma) and invasive aspergillosis. One primer (OPQ 6) was found to generate a reproducible amplification product that enabled distinction between the two groups according to the presence or absence of a 0.95-kb fragment that correlated with the nature of the infection (non-invasive or invasive) and immune status of the patient. The results indicated that the pathogenicity of A. fumigatus was related not only to the host's immune status but also to the virulence of the strain of A. fumigatus.

Aspergillosis↗
PubMed1996

DNA analysis and diagnostics on oligonucleotide microchips.

We present a further development in the technology of sequencing by hybridization to oligonucleotide microchips (SHOM) and its application to diagnostics for genetic diseases. A robot has been constructed to manufacture sequencing "microchips." The microchip is an array of oligonucleotides immobilized into gel elements fixed on a glass plate. Hybridization of the microchip with fluorescently labeled DNA was monitored in real time simultaneously for all microchip elements with a two-wavelength fluorescent microscope equipped with a charge-coupled device camera. SHOM has been used to detect beta-thalassemia mutations in patients by hybridizing PCR-amplified DNA with the microchips. A contiguous stacking hybridization technique has been applied for the detection of mutations; it can simplify medical diagnostics and enhance its reliability. The use of multicolor monitoring of contiguous stacking hybridization is suggested for large-scale diagnostics and gene polymorphism studies. Other applications of the SHOM technology are discussed.

Base Sequence↗
PubMed2000

Routine DNA analysis based on 12S rRNA gene sequencing as a tool in the management of captive primates.

Automated DNA sequencing of a fragment of the relatively slowly evolving mitochondrial 12S rRNA gene was used to distinguish primate species, and the method was compared with species determination based upon classical taxonomy. DNA from blood from 53 monkeys housed at the Stichting AAP Shelter for Exotic Animals, all Old World monkeys, was amplified by polymerase chain reaction (PCR) with a primer set spanning approximately 390 nucleotides of the mitochondrial 12S rRNA gene. The products were directly sequenced and compared with our database of primate 12S sequences. Many individuals were found to harbor a 12S sequence identical to one of the reference sequences. For others, phylogenetic methods were used for species estimation, which was especially informative in Cercopithecus species.

Animal Husbandry↗
PubMed1994

Differentiation of Escherichia coli strains using randomly amplified polymorphic DNA analysis.

Fifty-nine Escherichia coli strains isolated from 54 unrelated patients over a six-year period, as well as the reference strain of the species, were studied by analysis of randomly amplified polymorphic DNA (RAPD) to assess the usefulness of this genotyping approach in molecular epidemiology. Using a 10-mer oligonucleotide primer, 28 different RAPD fingerprints were distinguished among the 60 strains previously delineated in 36 ribotypes by EcoRI and HindIII digests. The patterns were reproducible and stable after in vitro and in vivo studies. Some strains harbouring an identical ribotype exhibited distinct RAPD fingerprints. Thus, these data illustrate the usefulness of the association of two genetic markers in assessing the relationship between strains. Interestingly, among the RAPD patterns, several bands were present only in the highly virulent carboxylesterase type B2 strains, which are more homogeneous than the carboxylesterase type B1 strains. Because of its simplicity and rapidity, RAPD analysis appears to be a highly valuable tool for studying E. coli molecular epidemiology.

Bacteremia↗
PubMed1994

Automated image analysis DNA cytometry in testicular cancer.

The value of automated DNA cytometry for differentiation of testis cancer was evaluated in 54 seminomas, 13 HCG-positive seminomas, and 48 embryonal carcinomas. Slices of paraffin embedded tissue were enzymatically digested and stained with Feulgen SITS after fixation on glass slides. Automated DNA cytometry was performed with a Modular Image Analysis Computer (MIAC). DNA histogram phenotpye and computed DNA indices were correlated with the different tumor types. The ratio of hypertriploid to hypotriploid increased from HCG-positive seminoma over embryonal carcinoma to seminoma. The following mathematical DNA indices were found to correlate with tumor type: mean ploidy, 2c deviation index, 5c exceeding rate, variation coefficient of the GO/1 fraction and DNA nucleus diameter correlation.

Carcinoma, Embryonal↗
PubMed1999

Microfluidic devices for DNA analysis.

Microfabricated electrophoresis devices allow us to perform short-tandem-repeat genotyping assays in under 2 min and sequence single-stranded DNA in under 15 min. This is 10-100 times faster than standard slab-gel and capillary systems. The microdevice format is the natural extension of 100 years of gradual improvements to electrophoresis but operates in an almost-perfect way, limited only by the sieving medium.

Acrylic Resins↗
PubMed1989

Variations associated with the DNA analysis of multiple fine needle aspirates obtained from breast cancer patients.

The present study was carried out to determine the variation in DNA content between multiple fine needle aspirates (FNA) of the same tumour from patients with breast cancer. Analysis of different aliquots of the same FNA showed good reproducibility in terms of cell cycle distribution and DNA index. Duplicate FNAs taken from different sites in nine of 11 excised tumours showed similar reproducibility. However, two of the aneuploid tumours displayed substantial variations in the distribution of cell populations between the duplicate samples. Sequential FNAs with no intervening therapy were obtained from the same tumour in 17 patients; one at the time of diagnosis and the other at biopsy 1-3 weeks later. Only five cases showed no variation between the sequential FNAs; the remaining 12 displayed different DNA profiles. A further 13 patients were studied before and during systemic therapy. While there was no variation between sequential FNAs in four patients, marked differences in the DNA profile were observed in the remaining nine patients undergoing treatment, the changes not necessarily being associated with clinical response to therapy. It is concluded that the monitoring of cellular changes by DNA analysis of sequential FNAs may be complex and subject to problems associated with heterogenecity.

Biopsy, Needle↗
PubMed2003

"Ancient" protocols for the crime scene? Similarities and differences between forensic genetics and ancient DNA analysis.

We provide a short overview on some current issues in the fields of forensic genetics and ancient DNA (aDNA) analysis. We discuss about the existence of the possible points of contact between the two disciplines, in terms of open problems and the inherent approach to their solution. We mainly focus on the problem of results authentication, its theoretical and technical aspects.

DNA↗
PubMed1993

Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy.

Leber's hereditary optic neuropathy (LHON) is characterized by subacute loss of central vision due to bilateral optic nerve atrophy accompanied by several nonspecific clinical findings. The only pathognomonic feature is its strictly maternal inheritance. It was therefore impossible to establish the diagnosis in patients with no known affected matrilinear sibs, until several mutations in the mitochondrial DNA (mtDNA) were discovered in relation to LHON. The authors describe the case histories and the occurrence of six mtDNA mutations in eight presumed singleton LHON patients and discuss the clinical and genetic implications of the results.

Adolescent↗