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Biomedical subjects

M Wagner

Publications and source records attributed to M Wagner.

At least 793 records · Page 44Linked to original sources
PubMed1990

The effect of replication errors on the mismatch analysis of PCR-amplified DNA.

The mismatch analysis of PCR-amplified DNA has generally assumed the absence of artificially introduced base substitutions in a significant proportion of the amplification product. This technique, however, differs from the direct sequencing of amplified DNA in that non-specific substitutions will render a molecule useless in analysis. The expected signal-to-noise ratio is heavily influenced by several parameters viz. initial template copy number, number of replication cycles, eventual product yield and the type of experimental system adopted. Mathematical modelling can be used to optimize fragment length with respect to the method applied and suggests as yet undescribed improvements such as partial modification or cleavage to optimize signal detection.

Base Composition↗
PubMed1990

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.

Specifically-primed reverse transcripts of lymphocyte-derived factor VIII (FVIII) mRNA were successfully amplified by means of the polymerase chain reaction (PCR) thus further extending the phenomenon of ectopic ("illegitimate") transcription of tissue-specific genes. The diagnostic potential of a basal rate of transcription in non-expressing tissues was then demonstrated by the detection of a novel point mutation in the FVIII gene causing haemophilia A by PCR/direct sequencing of ectopically transcribed mRNA derived from patient lymphocytes.

Base Sequence↗
PubMed1990

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences.

Using the polymerase chain reaction (PCR) technique, we have screened the DNA of 42 patients with Duchenne or Becker muscular dystrophy for deletions within the DMD gene. Two regions within putative deletion "hot spots" of this gene were tested, and deletions were found in 16.6% of patients. The oligonucleotide primers employed in this study initiate the amplification of exon sequences and were used to test the suitability and reliability of PCR in deletion screening and prenatal diagnosis using various numbers of cycles and artificial contamination ratios. We compared our approach with both "multiplex DNA amplification" and Southern blot analysis. A comparative evaluation of currently available techniques is presented.

Base Sequence↗
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

A simple but powerful theory of the moon illusion.

Modification of Restle's theory (1970) explains the moon illusion and related phenomena on the basis of three principles: (1) The apparent sizes of objects are their perceived visual angles. (2) The apparent size of the moon is determined by the ratio of the angular extent of the moon relative to the extents subtended by objects composing the surrounding context, such as the sky and things on the ground. (3) The visual extents subtended by common objects of a constant physical size decrease systematically with increasing distance from the observer. Further development of this theory requires specification of both the components of the surrounding context and their relative importance in determining the apparent size and distance of the moon.

Distance Perception↗