A DNA marker for human chromosome 8 that detects alleles of differing sizes.
A random, unique DNA sequence has been isolated and assigned to human chromosome 8. This sequence (D8MGV1) recognizes two alleles that differ in size by 700 bp.
Biomedical subjects
Publications and source records attributed to S Wood.
A random, unique DNA sequence has been isolated and assigned to human chromosome 8. This sequence (D8MGV1) recognizes two alleles that differ in size by 700 bp.
In this report we describe a patient who produced the clinical and laboratory features of Cushing's syndrome by injecting himself for many months with hydrocortisone. Factitious Cushing's syndrome is a variant of the Münchausen syndrome and should be considered if tests used to establish the diagnosis of Cushing's syndrome appear incongruous particularly in subjects with access to medical intelligence and drugs.
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We have used a recombinant DNA library constructed from flow-sorted human chromosome 8 as a source of single-copy human probes. These probes have been screened for restriction fragment length polymorphism (RFLP) by hybridization to Southern transfers of genomic DNA from five unrelated individuals. We have detected six RFLPs distributed among four probes after screening 741 base pairs for restriction site variation. These RFLPs all behave as codominant Mendelian alleles. Two of the probes detect rare variants, while the other two detect RFLPs with PIC values of .36 and .16. Informative probes will be useful for the construction of a linkage map for chromosome 8 and for the localization of mutant alleles to this chromosome.
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The authors present two cases of completely adhesed peroneus brevis and extensor carpi ulnaris tendon that have failed to respond to extensive conservative therapy. They found that the complete adhesions restricted tendon motion and thus prevented the conservative measures from providing relief. They demonstrate that surgery is a valid treatment for chronic persistent adhesive tenosynovitis that has not responded to conservative measures, resolving pain and restoring full range of motion.
The insulin-like growth factors and hystricomorph insulins have been modelled by interactive computer graphics on the assumption that their sequence homology to insulin implies that they will have a similar tertiary structure. These studies suggest that, although the insulin-related molecules can adopt the insulin fold, they are unlikely to form hexamers and if they form dimers they will be of reduced stability. The non-suppressibility of insulin-like growth factors by anti-insulin antibodies is explained in terms of differences of surface residues in the region A8-A10 and B1-B5. Receptor affinity of insulins and insulin-like growth factors for insulin receptors is explicable in terms of a receptor-binding site in the vicinity of B25 Phe on the insulin surface. An equivalent region around B25 Tyr of insulin-like growth factors may be responsible for their binding to type 1 receptors, although binding type 2 receptors must involve a different surface region not shared by insulin.
The uses and sources of capital in the hospital industry are rapidly changing. The author discusses new financing opportunities and what skills these financing strategies demand from hospital management and trustees.
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Preterm infants who were making expiratory efforts against ventilator inflation were randomised to be paralysed with pancuronium or to receive no paralysing agent during ventilation. Pneumothoraces developed in all 11 unparalysed babies but in only 1 of 11 (p less than 0.0004) of those managed with pancuronium, which had no serious side-effects. In 34 infants excluded from the trial because they were not breathing against the ventilator, no pneumothoraces developed.
We have examined 11 families of Asian Indian origin, who are segregating beta-thalassaemia alleles, for coupled restriction enzyme site markers. A beta-thalassaemia deletion allele, which removes over 600 base pairs, is a common cause of thalassaemia in this population. This deletion can be conveniently detected in AvaII restriction enzyme digests. Consequently AvaII digests are particularly informative in this population because both the deletion and a coupled restriction site polymorphism may be simultaneously observed.
The sequences, three-dimensional structures and biological activities of insulins and the related insulin-like growth factors demonstrate many changes that have occurred in evolution. In the hystricomorph rodent insulins this has led to insulins which differ not only from those of other mammals but also amongst themselves. They show no single characteristic substitution but generally exhibit reduced anabolic activity, increased growth promoting effects and inability to form oligomers. Their divergence is discussed in terms of orthologous evolution implying very variable rates of accepted mutations, and paralogous evolution for which a minimal hypothesis must be several silently evolving genes.