Phenylketonuria and the peoples of Northern Ireland View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-07

AUTHORS

J. Zschocke, J. P. Mallory, Hans G. Eiken, Norman C. Nevin

ABSTRACT

The comparison of regional patterns of recessive disease mutations is a new source of information for studies of population genetics. The analysis of phenylketonuria (PKU) mutations in Northern Ireland shows that most major episodes of immigration have left a record in the modern genepool. The mutation I65T can be traced to the Palaeolithic people of western Europe who, in the Mesolithic period, first colonised Ireland. R408W (on haplotype 1) in contrast, the most common Irish PKU mutation, may have been prevalent in the Neolithic farmers who settled in Ireland after 4500 BC. No mutation was identified that could represent European Celtic populations, supporting the view that the adoption of Celtic culture and language in Ireland did not involve major migration from the continent. Several less common mutations can be traced to the Norwegian Atlantic coast and were probably introduced into Ireland by Vikings. This indicates that PKU has not been brought to Norway from the British Isles, as was previously argued. The rarity in Northern Ireland of IVS12nt1, the most common mutation in Denmark and England, indicates that the English colonialisation of Ireland did not alter the local genepool in a direction that could be described as Anglo-Saxon. Our results show that the culture and language of a population can be independent of its genetic heritage, and give some insight into the history of the peoples of Northern Ireland. More... »

PAGES

189-194

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390050488

DOI

http://dx.doi.org/10.1007/s004390050488

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017218183

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9254847


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