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R Williamson

Publications and source records attributed to R Williamson.

At least 235 records · Page 13Linked to original sources
PubMed1990

Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia.

We have identified a hypervariable microsatellite sequence within the chromosome 9 marker MCT112 (D9S15), which we have previously shown to be tightly linked to Friedreich's ataxia (FRDA). The system detects 7 alleles ranging in size from 195 to 209 base pairs, and substantially increases informativity at the MCT112 locus. This enhances its use for genetic counselling in affected families. Recalculated combined linkage data between the FRDA locus and MCT112 gives a maximal lod score of 66.91 at a recombination fraction of theta = 0). There is no evidence of linkage disequilibrium.

Alleles↗
PubMed1990

delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population.

Chromosomes from 19 unrelated Southern Yugoslav families in which cystic fibrosis (CF) occurs were analysed for the presence of the delta F508 mutation, using polymerase chain reaction amplification followed by dot blot and polyacrylamide gel analysis. Of the 38 CF chromosomes, 15 (39.5%) carry the delta F508 deletion. Restriction fragment length polymorphism haplotypes for KM19/PstI, XV2c/TaqI and J3.11/PstI marker loci were determined and are compared for a total of 34 N and 37 CF chromosomes.

Cystic Fibrosis↗
PubMed1990

The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families.

Data are presented for delta F508 screening and KM19/XV2c haplotype analysis of 195 cystic fibrosis (CF) chromosomes from the British Caucasian population. We report the frequency of delta F508 in this group to be 80% and find pronounced disequilibrium between the deletion and the KM 2, XV 1 haplotype. Haplotype analysis of 71 normal chromosomes is also presented. We report one individual who had meconium ileus and who does not have the delta F508 mutation on either chromosome.

Cystic Fibrosis↗
PubMed1990

Expression of genes encoding two chains of the collagen type VI molecule during human fetal heart development.

Northern blot analysis was used to demonstrate the expression of genes encoding two chains of the extracellular matrix molecule, collagen type VI, in human fetal heart tissue. Both genes have been mapped to the Down's obligate region of chromosome 21. As congenital heart malformations are a common feature of Down's syndrome, developmentally regulated structural protein genes encoded by chromosome 21 are being investigated.

Blotting, Northern↗
PubMed1990

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.

DiGeorge syndrome is a human developmental field defect with the pathological features of an abnormality of embryogenesis at 4 to 6 weeks of gestation. Cytogenetic analyses of patients have revealed a number of instances of monosomy 22q11-pter in this condition. We have analyzed 52 DNA markers that map to 22q11-pter and have found 27 that are deleted in DiGeorge syndrome patients with known monosomy for part of this region and that are duplicated in patients with the der22 syndrome. The set of clones mapping to the DiGeorge region was further assigned to a proximal or a distal location within the deletion.

Base Sequence↗
PubMed1990

Modification of penicillin-binding proteins of penicillin-resistant mutants of different species of enterococci.

Mutants resistant to penicillin G were selected in a stepwise manner from nine different species of enterococci. Mutants with the highest level of resistance showed cross-resistance to all beta-lactams tested. For eight of the nine species, resistance correlated with increased production of a low molecular weight penicillin-binding protein (PBP). Two of these species produced a new PBP of low molecular weight, while two other species produced an additional PBP of high molecular weight. With the exception of Enterococcus faecium, no difference was observed in terms of lysis or bactericidal effect when the sensitive strains and their resistant mutants were tested at ten times their respective MICs of penicillin G. With E. faecium an increased lytic and bactericidal effect was observed for the resistant mutant.

Bacterial Proteins↗
PubMed1990

Correlation of penicillin-induced lysis of Enterococcus faecium with saturation of essential penicillin-binding proteins and release of lipoteichoic acid.

Clinical isolates of Enterococcus faecium that had a range of susceptibilities to penicillin were found to differ significantly in their responses to the antibiotic. In the penicillin-susceptible group (MIC, less than or equal to 4 micrograms/ml), the cessation of growth (bacteriostasis) at 10 x the MIC of penicillin appeared to correlate with the inhibition of penicillin-binding protein (PBP) 5*, whereas the onset of lysis (bactericidal effect) at higher antibiotic concentrations (100 x the MIC) was concomitant with the inhibition of the lower-affinity PBP 5. In contrast, in the resistant (MIC, greater than or equal to 8 micrograms/ml) group (in which most of the strains did not contain PBP 5*), the degree of saturation of PBP 5 seemed to determine the physiological response to the antibiotic: low levels of saturation caused growth inhibition, whereas almost complete saturation correlated with lysis. The penicillin-induced cell lysis of both penicillin-susceptible and -resistant strains was attributed, at least in part, to the extensive loss of acylated lipoteichoic acid into the growth medium.

Bacterial Proteins↗
PubMed1990

Presence of an additional penicillin-binding protein in methicillin-resistant Staphylococcus epidermidis, Staphylococcus haemolyticus, Staphylococcus hominis, and Staphylococcus simulans with a low affinity for methicillin, cephalothin, and cefamandole.

The presence of an additional penicillin-binding protein (PBP) was demonstrated in methicillin-resistant strains of Staphylococcus epidermidis, S. haemolyticus, S. hominis, and S. simulans. In these four species, the apparent molecular mass of this protein was analogous to that of PBP 2' of methicillin-resistant S. aureus SR 1550-9. It exhibited a low affinity for methicillin, cephalothin, and cefamandole; and its synthesis was methicillin inducible. Peptide mapping of this PBP from the four species yielded identical results that were analogous to those obtained with S. aureus SR 1550-9. These results suggest that this protein is similar to, if not the same as, PBP 2' of S. aureus and that it is involved in methicillin resistance in the four species studied.

Bacterial Proteins↗
PubMed1990

Identification of coagulase-negative staphylococci by electrophoretic profile of total proteins and analysis of penicillin-binding proteins.

Analyses of total solubilized proteins and penicillin-binding proteins by sodium dodecyl sulfate-polyacrylamide gel electrophoresis were demonstrated to be accurate methods for the identification of coagulase-negative staphylococci. However, penicillin-binding protein profiles were found to be much clearer for the identification of these organisms to species level than was examination of the total solubilized proteins. By using the former technique, 13 reference strains were found to have species-specific penicillin-binding protein profiles, and 150 of 160 randomly collected clinical isolates were identified as belonging to eight of these species. A group of three clinical strains probably represents the recently described species Staphylococcus lugdunensis; the other seven clinical isolates belonging to five species remained unclassified.

Bacterial Proteins↗
PubMed1990

The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.

The clinical symptoms of a cohort of cystic fibrosis patients were related to their genotypes using RFLPs shown with MspI and the closely linked DNA marker MP6d-9. In the majority of CF chromosomes, the restriction site for MspI was present, and the genotype 2/2 was found most often in patients who were severely affected by the disease. The genotype 1/2 was significantly over-represented in patients with very mild clinical manifestations, including pancreatic sufficiency, absence of meconium ileus, and absence of Pseudomonas colonisation. When pancreatic dysfunction was present, the 1/2 genotype was associated with a mild form, while the 2/2 genotype was found in patients with severe insufficiency. None of our patients had the 1/1 genotype. These results indicate that the newly isolated MP6d-9 marker correlates with some important symptoms of cystic fibrosis.

Cystic Fibrosis↗
PubMed1990

Regional localisation of the Friedreich ataxia locus to human chromosome 9q13----q21.1.

We have previously assigned the Friedreich ataxia locus (FRDA) to chromosome 9; the current maximal lod score between FRDA and MCT112 (D9S15) is greater than 50 at a recombination fraction of theta = 0. The physical assignment of the locus defined by MCT112, and hence FRDA, has not been determined, although linkage analysis of MCT112 with other chromosome 9 markers inferred a location close to the centromere. We have used in situ hybridisation with MCT112, a corresponding cosmid MJ1, and DR47 (D9S5), coupled with mapping studies on hybrid cell panels, to define more precisely the location of the disease locus. The in situ location of all three probes is 9q13----q21.1, distal to the variable heterochromatin region. Physical assignment of FRDA will allow us to identify hybrid cell lines containing the mutated gene.

Chromosome Mapping↗
PubMed1990

Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.

The locus for autosomal dominant ataxia with a diagnosis of olivo-ponto-cerebellar atrophy at autopsy has been previously assigned to chromosome 6p. However, evidence for two alternative locations has been reported. We have recently described a large potential founder-effect population of such patients in the Holguin province of Cuba. With an estimated 1,000 patients available for analysis, this extensive cluster of families provides a unique opportunity for the definitive localization of the genetic mutation. Linkage analysis between the disease locus in this population and markers within and flanking the HLA region on chromosome 6 were undertaken in 12 families comprising over 100 affected individuals. Despite similarity in the clinical phenotype between those families where the disease locus has been reported to be linked to the HLA locus and the Cuban patients, no evidence of linkage to this region could be demonstrated in the latter. The disease locus was excluded from a 96-cM genetic interval of the short arm of chromosome 6, encompassing the F13A1-HLA-GLO1-MUT/D6S4 loci. These data strongly support the existence of genetic heterogeneity for the disease.

Chromosomes, Human, Pair 6↗
PubMed1990

Immune hydrops fetalis attributable to anti-HJK.

We describe a new low-frequency antigen as the cause of immune hydrops fetalis in a fetus presenting at 27 weeks with a hematocrit of 6%. The fetus was treated successfully by intravascular transfusion. This antigen, temporarily identified as HJK, has been detected in only one family.

Adult↗
PubMed1990

Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21.

Evidence from linkage studies suggests that familial Alzheimer disease (AD) can be caused by a defect in a gene on the proximal long arm of chromosome 21. We have constructed a physical map spanning 10 megabases of this region of the chromosome by means of pulsed-field gel electrophoresis and analysis of somatic cell hybrids. Our data have allowed us to establish the order of chromosome 21 loci--cen-(S16,S48)-S13-S46-S4-(S52,S110)-(S1,S1 1)--and are thus of immediate relevance both to multipoint linkage analysis in families affected by AD and for moving from this linkage to the isolation of the genetic defect. We have also been able to identify several CpG-rich sequences close to the four most centromeric loci, suggesting the location of genes in this region. These probes, which are all within 1.5 megabases of one another, are currently the markers most tightly linked to the AD locus. Genes identified in this region can therefore be considered as candidates for the disease locus.

Alzheimer Disease↗