Phenylketonuria and the peoples of Northern Ireland ( full article )

[Euclides]

''Genetic and archaeological data implicate I65T as a
marker mutation for the pre-Neolithic people of western
Europe who subsequently formed a significant proportion
of the modern Irish genepool. The mutation is common in
Ireland, Britain and Spain (with data absent from France)
but rare elsewhere in Europe. I65T is an ancient mutation
as it occurs on at least five different haplotypes together
with several different STR alleles; the predominant association
with haplotype 9 in all populations makes independent
recurrence unlikely (data not shown). Also, the
most common Irish mutation (R408W) is rare in Spain
and the most common mutation in Spain (IVS10nt546) is
rare in Ireland. I65T thus indicates a west European genetic
link that existed before the spread of IVS10 along
the Mediterranean coast (probably in the Neolithic period,
Dianzani et al. 1994) or before the introduction of R408W
into Ireland. A more recent expansion of I65T from a
third country into Ireland or Spain is unlikely since the
mutation is rare elsewhere. There is no archaeological evidence
for substantial links between Spain and the British
Isles in the Neolithic period or later. Farming was introduced
to Britain and Ireland via central and western Europe
(Whittle 1977; Megaw and Simpson 1979) but entered
the Iberian peninsula through the Mediterranean.
I65T thus was probably prevalent in the Palaeolithic people
of south-west Europe who later colonised Ireland and
Scotland .''

[Milesian]

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