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Biomedical subjects

W Amos

Publications and source records attributed to W Amos.

48 records · Page 3Linked to original sources
PubMed1996

Microsatellite markers for the study of cetacean populations.

Microsatellites are one of the most important classes of nuclear genetic markers and offer many advantages for the study of marine mammals. Here we describe the isolation and characterization of 12 cetacean microsatellites which are then tested across 30 different cetacean species. For around half the species tested, five or more polymorphic loci were identified. Since many species were represented by only one or two specimens, this figure is likely to underestimate the usefulness of these markers. No relationship was found between microsatellite repeat length and proportion of species which gave polymorphic products.

Animals↗
PubMed1995

Microsatellites evolve more rapidly in humans than in chimpanzees.

Microsatellites are highly polymorphic markers consisting of varying numbers of tandem repeats. At different loci, these repeats can consist of one to five nucleotides. Microsatellites have been used in many fields of genetics, including genetic mapping, linkage disequilibrium analyses, forensic studies, and population genetics. It is important that we understand their mutational processes better so that they can be exploited optimally for studies of human diversity and evolutionary genetics. We have analyzed 24 microsatellite loci in chimpanzees, East Anglians, and Sub-Saharan Africans. The stepwise-weighted genetic distances between the humans and the chimpanzees and between the two human populations were calculated according to the method described by Deka et al. (1994, Genomics 22, 226-230). The ratio of the genetic distances between the chimpanzees and the humans relative to that between the Africans and the East Anglians was more than 10 times smaller than expected. This suggests that microsatellites have evolved more rapidly in humans than in chimpanzees.

Animals↗
PubMed1995

Microsatellite evolution--evidence for directionality and variation in rate between species.

Microsatellite DNA sequences are rapidly becoming the dominant source of nuclear genetic markers for a wide range of applications, from genome mapping to forensic testing to population studies. If misinterpretation is to be avoided, it is vital that we understand fully the way in which microsatellite sequences evolve. We have therefore compared allele length distributions for 42 microsatellites in humans with their homologues in a range of related primates. We find a highly significant trend for the loci to be longer in humans, showing that microsatellites can evolve directionally and at different rates in closely related species.

Alleles↗
PubMed1995

Microsatellite variation in grey seals (Halichoerus grypus) shows evidence of genetic differentiation between two British breeding colonies.

Eight highly variable microsatellite loci were used to examine the genetic variability and differentiation of grey seals (Halichoerus grypus) at two widely spaced British breeding colonies. Samples were collected from adults and pups on the island of North Rona, off the north-west coast of Scotland, and on the Isle of May, situated at the mouth of the Firth of Forth on the east coast. Highly significant differences in allele frequencies between these two sites were found for all eight loci, indicating considerable genetic differentiation. Thus, although grey seals are known to range over very large areas outside the breeding season, site fidelity of adults and philopatry of pups for these breeding colonies must be sufficiently common to have effects, through genetic drift, at the sub-population level. Migration rate was estimated using Wright's fixation index (FST), Slatkin's private alleles model and the new statistic, RST, which is analogous to FST but which takes into account the process of microsatellite mutation. An almost 8-fold discrepancy between the values we obtained provides cautionary evidence that microsatellite loci may contravene one or more of the assumptions on which these methods are based.

Alleles↗
PubMed1994

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

Huntington's disease (HD) correlates with abnormal expansion in a block of CAG repeats in the Huntington's disease gene. We have investigated HD evolution by typing CAG alleles in several human populations and in a variety of primates. We find that human alleles have expanded from a shorter ancestral state and exhibit unusual asymmetric length distributions. Computer simulations are used to show that the human state can be derived readily from a primate ancestor, without the need to invoke natural selection. The key element is a simple length-dependent mutational bias towards longer alleles. Our model can explain a number of empirical observations, and predicts an ever-increasing incidence of HD.

Alleles↗
PubMed1994

Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations.

Myotonic dystrophy (DM) is associated with abnormal expansions of the CTG repeats in the 3' untranslated region of its gene. Previous studies in individuals of European origin demonstrated strong linkage disequilibrium between different CTG repeat length alleles and an Alu element insertion/deletion polymorphism in intron 8 of the DM gene: CTG11-13 chromosomes were almost exclusively associated with the deletion allele, while chromosomes with five or 19-30 repeats or disease chromosomes were only found on the insertion allele. One of the models suggested by these results proposed that the triplet repeats on insertion-associated chromosomes were particularly prone to mutation. Studies of other triplet repeat disorders have suggested that arrays of perfect repeats are more prone to instability than those that are interrupted. We have examined the evolution of this locus by typing a variety of primates and samples drawn from several different human populations for both CTG repeat length and the insertion/deletion polymorphism. DM gene sequences from different primates revealed inter- and intraspecies variability in the number of CTG repeats. Human chromosomes with five repeats or 11-13 repeats (the two major modes of the human CTG repeat distributions) showed no evidence of preferential stabilization of these repeat sizes by imperfect sequences. The insertion and deletion allele frequencies showed large interpopulation variation and the degree of association between these alleles and various CTG repeat lengths is not nearly as complete as was previously supposed. We have found deletion alleles carrying long normal (> 19) CTG repeats and insertion alleles associated with CTG11 - 13 in two african populations.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1993

Male mating success and paternity in the grey seal, Halichoerus grypus: a study using DNA fingerprinting.

Grey seals breed colonially on remote coastal sites. Within the colony, males compete aggressively for access to the females. We compare field observations of breeding behaviour with paternity, as determined by DNA fingerprinting, in the breeding colony on the island of North Rona. In 89% of cases where paternity was assigned, the father was observed near the mother during her perioestrous period, although in some cases this was discovered retrospectively. However, the most likely candidate male, judged on the basis of behavioural criteria, was shown not to be the father in 36% of cases. Overall, DNA typed males were more dominant, maintained positions amongst the females for longer, and accounted for disproportionately more paternities than untyped males. However, the reproductive success of the typed males is not as great as their behavioural domination of copulatory opportunities would suggest. Possible contributory factors which could explain this include: (i) imprecision in the estimates of copulatory opportunity due to mobility of males or topographical influences on individual behaviour; and (ii) opportunities for subordinate males to copulate with receptive females, either sneakily within the colony or in the water.

Animals↗
PubMed1992

DNA fingerprinting: parentage studies in natural populations and the importance of linkage analysis.

It has been suggested that a full linkage analysis is a prerequisite for confident paternity testing, by using DNA fingerprinting, in natural populations. These fears are based on a confusion between linkage and linkage disequilibrium and a misplaced assumption that linkage between bands will necessarily reduce the effective number of paternal-specific bands. Several methods for detecting linkage without resorting to the analysis of large sibships are considered, for example, by analysing half-sibships, by band-association, and by altering the experimental conditions used. Even if linkage is present, the magnitude of its effects are unlikely to undermine the accuracy of the technique, given the average levels of variability being detected. We conclude that the effects of linkage are only likely to present a problem when sample sizes are very small or when closely related individuals are being tested together.

Animals↗
PubMed1980

Three-day treatment of urinary tract infections.

There is little rationale to support the currently accepted 10 to 14-day treatment period for urinary tract infection. To assess the cure rate in patients given 3 days compared to the standard 10-day period of antimicrobial therapy a prospective trial was designed to test the over-all effectiveness of each treatment. Sixty patients were randomized to either penicillin-G or trimethoprim-sulfameth-oxazole for either 3 or 10 days. Urine and external vaginal cultures were done before therapy was instituted, at day 3 while on therapy and 7 days after the completion of treatment. The over-all cure rate in the short-term treatment group was 86 per cent and in the long-term treatment group it was 88 per cent. Patients receiving trimethoprim-sulfamethoxazole had a much better response to clearance of the pathogenic bacteria from the external vagina but this did not correlate with clearance of the bladder bacteriuria. Bacterial sensitivities on the external vaginal cultures suggest that in some patients 10 days of therapy actually may aid in the development of bacterial resistance noted in subsequent bladder infections. Finally, a cost-benefit analysis revealed that the use of a 3-day regimen as standard treatment for urinary tract infections would result in a savings to our patients conservatively estimated at $62,000,000 yearly.

Adolescent↗
PubMedDate not supplied

Low genetic variability in the highly endangered mediterranean monk seal.

Genetic variability is an important component in the ability of populations to adapt in the face of environmental change. Here we report the first description of nuclear genetic variability in the only remaining sizable colony of the Mediterranean monk seal (Monachus monachus), located at Cap Blanc (Western Sahara, Mauritania), whose estimated size during the study period (1994-May 1997) was about 320 individuals. We tested 42 microsatellite loci isolated from five pinniped species in a sample of 52 pups. Three loci failed to give any product, and of the remaining 39, only 15 were polymorphic, with a maximum of 3 alleles detected. Three loci appeared to be X-linked. No departures from Hardy-Weinberg equilibrium were detected and no genetic structure was found between the two nursing caves currently occupied by the seals. Several analytical methods show that, as a consequence of a severe bottleneck, the population has suffered a decrease in genetic variability over the last few centuries.

Animals↗