Thermolabile methylenetetrahydrofolate reductase (C677T):frequency in the Irish population

BACKGROUND: The genetic variation which underlies the thermolability and low enzyme activity of 5,10-methylenetetrahydrofolate reductase (MTHFR; C677T) has been extensively studied in many populations, including the Irish population.

AIM: To describe the examination of the C677T substitution in two new control samples drawn from the Irish population.

METHODS: A collection of 487 serum samples was obtained through the blood transfusion services of both the Republic of Ireland and Northern Ireland and a further 115 samples from volunteers.

RESULTS: In both samples, the frequency of the thermolabile/low enzyme activity allele (T) was higher than that previously reported for the Irish population.

CONCLUSION: This finding thus supports the need for a greater use of internal control/family-based association studies, as opposed to the classic case control study design, when assessing the contribution of the MTHFR T allele to disease processes.

Prevalence of the factor VR506Q mutation in two Irish control populations:use of a novel nested polymerase chain reaction approach

The prevalence of factor V (FV) Leiden among normal populations has primarily been determined using blood donors. This control group is carefully selected and therefore may not accurately reflect the true prevalence within the population. We assessed the prevalence of FV Leiden within the Irish population using Guthrie card samples randomly selected from all newborns. We compared this result with the prevalence of FV Leiden within blood donors. A novel nested polymerase chain reaction (PCR) method for FV Leiden was developed for analysis of the Guthrie card samples. There was no significant difference between the allele frequency within the Guthrie card samples and blood donors (2.07% vs. 2.35%, P = 0.66)

Prevalence of the prothrombin G20210A mutation in the Irish populations:use of a novel polymerase chain reaction approach

The prothrombin G20210A polymorphism is associated with a threefold-increased risk of venous thrombosis. There is considerable variation in the reported prevalence of this polymorphism within normal populations, ranging from 0 to 6.5%. The prevalence within the Irish population has not been determined. A restriction fragment length polymorphism (RFLP)-based assay is commonly used for the detection of the prothrombin 20210A allele. This assay does not include a control restriction digest fragment and, consequently, failure of the enzyme activity or lack of addition of enzyme to the sample cannot be distinguished from wild-type prothrombin. We developed a RFLP-based assay, which incorporates an invariant digest site, resulting in the generation of a control digest fragment. Furthermore, we developed a nested polymerase chain reaction (PCR) method for the amplification and digestion of poor-quality or low-concentration DNA. In the Irish population studied, five of 385 (1.29%) were heterozygous and one patient was homozygous for the prothrombin 20210A polymorphism. This is the first reported data on an Irish or Celtic population and suggests that the allele frequency is similar to Anglo-Saxon populations. The nested PCR method successfully amplified and digested 100/100 (100%) of the archived samples; none of these samples could be analyzed by the standard single-round PCR method. In conclusion, nested PCR should be considered in the analysis of archived samples. Single-round PCR is appropriate for recently collected samples; however, an invariant control digest site should be incorporated in RFLP-based assays to validate the integrity of the digestion enzyme and limit the risk of false-negative results.

Frequency of deletion 508 among Irish cystic fibrosis patients

We estimate the incidence of cystic fibrosis in Ireland to be at least 1 case per 1838 live births. We have analysed DNA from 44 Irish CF patients for the presence of deletion 508, using the polymerase chain reaction. The deletion was found in 76% of their chromosomes, and approximately 58% of the patients are homozygous for this deletion. Our results are not significantly different from those found in Canadian or UK patient populations, in which frequencies are higher than those found in Southern European countries.

A Pilot Study of Reciprocal Peer Tutoring in Irish Medium Schools

A pilot study to investigate the effects of mathematics peer tutoring in Irish medium primary schools was undertaken. Five schools and 90 students took part in the pilot. Materials and resources that had previously been shown to work in English medium Scottish schools were translated into Irish by CCEA. Irish medium teachers attended three professional development days. Teachers implemented the peer tutoring techniques during mathematics lessons during a period of 16 weeks. Changes in attainment were measures with an Irish translation of the Scottish Survey of Achievement Mathematics Test. Results were positive. Student attainment was significantly raised during the 16-week implementation period by over one standard deviation. This equated to one-year’s worth of mathematics development during this time period. Results must be treated with caution. No control group was used in the pilot study. However, results are very promising and indicate that reciprocal role peer tutoring may be a useful pedagogy in Irish medium education. Further work would be required to establish this definitively.

John Punch, Scotist Holy War, and the Irish Catholic Revolutionary Tradition in the Seventeenth Century

During the 1640s, the Irish Franciscan theologian John Punch taught his theology students in Rome that war against Protestants was made just by their religion alone. Jesuits like Luis de Molina identified the holy war tradition in which Punch stood as a Scotist one, and insisted that the Scotists had confused the natural and supernatural spheres. Among Irishmen, Punch was unusual. The main Irish Catholic revolutionary tradition employed Jesuit and Thomist theory. They argued that the Stuarts had lost the right to rule Ireland for natural reasons, not supernatural ones; because the Stuarts were tyrants, not because they were Protestants.

Shallow water methane-derived authigenic carbonate mounds at the Codling Fault Zone, western Irish Sea

Methane-derived authigenic carbonate (MDAC) mound features at the Codling Fault Zone (CFZ), located in shallow waters (50-120m) of the western Irish Sea were investigated and provide a comparison to deep sea MDAC settings. Carbonates consisted of aragonite as the major mineral phase, with δ¹³C depletion to -50‰ and δ¹⁸O enrichment to~2‰. These isotope signatures, together with the co-precipitation of framboidal pyrite confirm that anaerobic oxidation of methane (AOM) is an important process mediating methane release to the water column and the atmosphere in this region. ¹⁸O-enrichment could be a result of MDAC precipitation with seawater in colder than present day conditions, or precipitation with ¹⁸O-enriched water transported from deep petroleum sources. The ¹³C depletion of bulk carbonate and sampled gas (-70‰) suggests a biogenic source, but significant mixing of thermogenic gas and depletion of the original isotope signature cannot be ruled out. Active seepage was recorded from one mound and together with extensive areas of reduced sediment, confirms that seepage is ongoing. The mounds appear to be composed of stacked pavements that are largely covered by sand and extensively eroded. The CFZ mounds are colonized by abundant Sabellaria polychaetes and possible Nemertesia hydroids, which benefit indirectly from available hard substrate. In contrast to deep sea MDAC settings where seep-related macrofauna are commonly reported, seep-specialist fauna appear to be lacking at the CFZ. In addition, unlike MDAC in deep waters where organic carbon input from photosynthesis is limited, lipid biomarkers and isotope signatures related to marine planktonic production (e.g. sterols, alkanols) were most abundant. Evidence for microbes involved in AOM was limited from samples taken; possibly due to this dilution effect from organic matter derived from the photic zone, and will require further investigation.