Biomedical subjects
R J Bellamy
Publications and source records attributed to R J Bellamy.
Host genetic susceptibility to human tuberculosis.
Convincing evidence exists that host genes influence the outcome of infection in human tuberculosis. We are employing two complementary strategies to find the genes involved: a linkage-based, comprehensive genome screen and an association-based candidate gene study. In a genome screen of 282 markers on 92 affected sib pairs we have found evidence of co-segregation of disease with five markers, but further studies are required to replicate these results. The absence of a single strongly linked marker demonstrates that susceptibility to human tuberculosis is not controlled by a single major gene. Using a candidate gene approach investigating over 400 tuberculosis cases and 400 ethnically matched healthy controls we have found evidence that NR AMP1 and vitamin D receptor gene (VDR) polymorphisms are associated with tuberculosis. It is hoped that by identifying the genes that account for why only a minority of those exposed to tuberculosis develop disease, we will develop new insights into potential therapeutic and preventative strategies.
Unrecognized hypocalcaemia diagnosed 36 years after thyroidectomy.
Hypoparathyroidism can present many years after thyroidectomy and symptoms may be non-specific. Hypocalcaemia may cause a variety of physical and mental symptoms and the diagnosis is easily overlooked with serious and potentially fatal consequences. Patients with vague symptoms should always be asked about previous thyroid surgery and serum calcium should be measured.
Increased band sharing in DNA fingerprints of an inbred human population.
We have compared band sharing between the DNA fingerprints of members of an inbred human population with band sharing between members of an outbred population. It had not previously been determined whether the high rate of mutation at minisatellite loci is sufficient to prevent an increase in band sharing in moderately inbred populations. We have found that there is an increase in band sharing in the 2-kb to 9-kb size range, but not in the greater than 9-kb size range, in the inbred population. The difference was consistently observed using four different multi-locus probes, viz. 33.6, 33.15, (CAC)5 and M13. Thus, we have demonstrated that moderate but prolonged inbreeding can lead to increased similarity in human DNA fingerprints. This should be considered when analysing DNA fingerprints in forensic or paternity cases involving members of an inbred community.