The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.

O'Donnell KA, O'Neill C, Tighe O, Bertorelle G, Naughten E, Mayne PD, Croke DT.

Department of Pathology, The Children's Hospital, Temple Street, Dublin 1, Republic of Ireland.

Phenylketonuric and hyperphenylalaninaemic patients in the population of the Republic of Ireland were screened for mutations at the human phenylalanine hydroxylase (PAH) locus. A composite data set for the island of Ireland was generated by merging the findings of this study with extant data for Northern Ireland. Analysis of this data on the basis of the four historic provinces (Munster, Leinster, Connacht and Ulster) revealed genetic diversity that is informative in terms of demographic forces that shaped the Irish population. R408W, the predominant Irish PAH mutation associated with haplotype 1.8, reached its highest relative frequency in the most westerly province, Connacht. This suggests that the gradient of R408W-1.8 observed across north-western Europe continues into Ireland and peaks in Connacht. Spatial autocorrelation analysis demonstrated that the gradient is consistent with a localised cline of R408W-1.8 likely to have been established by human migration. This and parallel allele frequency clines may represent the genetic traces of the Palaeolithic colonisation of Europe, a pattern not substantially altered in north-western Europe by subsequent Neolithic migrations. An analysis of mutant allele distributions in Ulster, Scotland and the rest of Ireland confirmed that Ulster has been a zone of considerable admixture between the Irish and Scottish populations, indicating a proportion of Scottish admixture in Ulster approaching 46%. Mutations primarily associated with Scandinavia accounted for 6.1% of mutations overall, illustrating the influence of Viking incursions on Irish population history.

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Feasibility and utility of microsatellite markers in archaeological cattle remains from a Viking Age settlement in Dublin.

Edwards CJ, Connellan J, Wallace PF, Park SD, McCormick FM, Olsaker I, Eythorsdottir E, MacHugh DE, Bailey JF, Bradley DG.


Anim Genet. 2003 Dec;34(6):410-416.

Department of Genetics, Trinity College, Dublin, Ireland National Museum of Ireland, Dublin, Ireland Department of Clinical Pharmacology, Royal College of Surgeons in Ireland, Dublin, Ireland School of Archaeology and Palaeoecology, Queen's University, Belfast, Northern Ireland Department of Morphology, Genetics and Aquatic Biology, Norwegian College of Veterinary Medicine, Oslo, Norway Agricultural Research Institute, Keldnaholt, Reykjavik, Iceland Department of Animal Science and Production, Conway Institute of Biomolecular and Biomedical Research, Faculty of Agriculture, University College Dublin, Belfield, Dublin, Ireland.

Nineteen cattle bones from the Viking 10th and early 11th century levels in Dublin were assessed for presence of reliable genotypes from three autosomal markers. Due to the good preservational condition of the samples, it was possible to amplify and type at least two out of three of the microsatellite markers (CSRM60, HEL1 and ILSTS001) in 11 specimens. Full three-loci genotypes were obtained from a subset of seven of these samples. A comparative analysis was performed using data from the same three markers in 11 extant British, Irish and Nordic cattle breeds. Although the medieval remains displayed lower levels of diversity than the modern European breeds, the results fit within the ranges obtained from the extant populations. The results indicate a probable origin for the ancient Irish cattle as the remains group significantly more closely with breeds from the British Isles than with those from Scandinavia. The data collected indicate that microsatellites may be useful for the further study of ancient cattle.

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Anthropometric variation and the population history of Ireland.

Relethford JH, Crawford MH.

Department of Anthropology, State University of New York College, Oneonta 13820, USA.

Genetic variation among human populations can reflect a combination of contemporary patterns of gene flow and genetic drift as well as long-term population relationships due to population history. We examine the likely impact of past history and contemporary structure on the patterns of anthropometric variation among 31 counties in Ireland (made up of the two nations of the Republic of Ireland and Northern Ireland). Data for 17 anthropometric measures and parent-offspring migration on 7,214 adult Irish males were taken from the large data set originally collected by Dupertuis and Dawson in the mid-1930s (Hooton et al., 1955). Patterns of genetic similarity among 31 counties were assessed using R matrix methods that allow estimation of minimum genetic distances. These distances were compared to distances reflecting history, geography, and migration using matrix permutation methods. The results indicate that among-group variation in Ireland reflects past population history to a much greater extent than contemporary patterns of migration and population size. The midland counties are distinct from other populations, and their history suggests greater genetic input from early Viking invasions. A second major pattern in biological variation is a longitudinal gradient separating western and eastern counties. This gradient appears related to patterns of early settlement and/or a concentration in the east of later immigrants, particularly from England. Comparison of regional means with published data for several other European nations confirms these hypotheses.


Ann Hum Biol. 1983 Jul-Aug;10(4):321-33. Related Articles, Links

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Genetic structure and population history of Ireland: a comparison of blood group and anthropometric analyses.

Relethford JH.

Population structure and history may be studied on a local or a regional level. This paper examines the regional population structure of the Republic of Ireland and Northern Ireland with respect to population history and demographic processes. Blood-group and anthropometric data obtained from the literature are analysed. The blood-group data consist of ABO and Rhesus gene frequencies for 32 counties and the Aran Islands. Anthropometric data consist of summary statistics for 15 variables collected from 19 regions. The degree and pattern of population differentiation is assessed using new methods of population-structure analysis. Both blood group and anthropometric analyses show a west-east division of populations corresponding to the known history of inhabitation of Ireland, where successive waves of immigrants pushed earlier populations further west. In both analyses there were two deviations to this basic pattern: the Aran Islands and the midlands. In both cases, alternative historical explanations are examined. The genetic relationship of the Aran Islands to the rest of Ireland and England appears to be due to English admixture following the garrisoning of soldiers several centuries ago. The genetic position of the midlands is more complex, but suggests the effects of early Viking inhabitation. These findings are related to studies of the local, rather than regional, population structure of Ireland.

Eur J Hum Genet. 2003 Dec 24 [Epub ahead of print].

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