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Some Aspects of Basques Genetics
The Basques inhabit rugose terrain in the SW extremity of France and adjacent Spain,which is comprised of seven provinces.These lands are called Euskal Herria ,the land of the Euskera speakers. It is their unique,ancient,non-Indo-European,agglutinating language,which identifies the Basques, who have a high frequency of Rh negative blood [ca 25%].No linguistic equivalent to their language has been found.The origin of this tongue is unknown.A proto-type "might" have been introduced to the Basques lands by people,who predated the influx of Neolithic agriculturalists,who "may" have spoken an Indo-European language [speculation].
Preservation of the Basque identity contrasts sharply with the physical,but not genetic, disappearance of the Neanderthals.The sparse scatterings of small Neanderthal groups were not able to cope with the appreciable influxes of Homo sapiens.The Basques were largely concentrated in a relatively rugged region and large tracts of their land was not prime acerage.An indigenous core,which was probably assembled from proximal,warmer,segments of Iberia,after the Younger Dryas,appears to have had sufficient numbers to found the Basques and assimilate subsequent newcomers.The original inhabitants included ancient Iberians and possibly some individuals with Neanderthal genes.Later additions have diluted the frequencies of the founders,but the new populace managed to retain a Basque identity.
A Gonz'ales [2006] analyzed 211 Basques samples utilizing the hypervariable segment of the mtDNA control region and diagnostic RFIP techniques.The four sequences,which were derived from haplogroup [hg] U8 were completely sequenced.Hg U was one of the earliest genetic lineages,that was dispersed from the Middle East to western Europe.Sub-hg U81a,which has a coalescence time of ca 13 +/-5.0Ka,has a 1.0% frequency in Basques lands.The greatest U8a diversity occurs on the Iberia Peninsula,which suggests that a few Basques could be descended from the Gravettians [ibid].The Adaieta cemetery samples contained four ancient U2e samples,which have not been identified among modern Basques.U2e is common in the Middle East [A Alzuaide,2007].Analysis of the remains of a ca 8.5Ka old Basque fisherman from the cost of Hondarribia and Pessia suggests,that ca 50% of his diet was comprised of marine food [A Arrizbalagg,2006].
Analysis of 623 Y chromosome samples identified 23 hgs.This study indicated,that the barrier between the Basques and their immediate neighbours was minimal.The Iberian populations had a reduced genetic structure and recent migrations have not totally erased the ancient Iberian Y chromosome patterns [C Flores,2004].The population of Ireland has retained a higher indigenous component than the Basques,who were closer to the European migration routes.
The mtDNA genetic study by A Alzuaide [2006] provides information about temporal changes in the Basques female gene pool.The mtDNA of 65 human remains from the ca 550-770 ADE Basque Adaista cemetery were analysed and compared with a large selection of worldwide haplotypes and three prehistoric groups of proto-Basques[?] .The unique haplotypes 5,9 and 11 were not present in the Genbank samples or among the world wide comparison sequences.Haplotypes 7,8,10,12,16 and 17 were deemed to be uncommon in Europe. The other six haplotypes were widely dispersed throughout western Europe.This distribution pattern has similarities to those populations on the Cantabrian fringe [ibid].
Two haplotypes of hg H account for 53% of the Aldaieta samples,which compares to 62.3% for extant Basques.,and 37-44% at the prehistoric sites of Rico Ramos,Langar and Sjapl .The percentage of hg H has increased since prehistoric times in Basques Lands.This differs from hg V,which has not been identified at the three prehistoric sites and is represented by a single sample at Aldaieta.The frequency of Hg V ranges from 3-20% among present day Basques.There were two hg K samples at Adaieta.Present day Basques have a 3.6% frequency of hg K.This represents a significant reduction since prehistoric times,when frequencies of hg K varied from 16.7-24.0%.Hg J is generally associated with the introduction of farming to Europe from the Fertile Cresent.At the three prehistoric sites hg J averaged 16.4%,which was reduced to 14.7% at Aldaieta.Extant Basques only have a 2.4% frequency of hg J.The frequency of hgs U5 and U2 have diminished from 16.7 among the prehistoric specimens to 13.7% among modern Basques.No hg W samples were identified among the prehistoric or historic samples,which contrasts with a 1.2% presence among the extant Basques [ibid].
The pre- and historical Basques received external gene flow,which is not always reflected to the same extent in extant Basques populations.S Alonsel [2006] contends that they may not always have been the focus of major population expansions and might not be best representatives of the ancient European gene pool.It appears that hg V was introduced to the Basques at a relatively late date.There are genetic discontinuities between prehistoric/historic Basques and the extant populations [A Alzuaide,2006].
C Capelli [2003] reported that the Basques Y chromosome hgs tend to cluster with those of Ireland [Castlerea],Cornwall, and western Wales [eg:Haveford West,Llangfini],which can be attributed to the northward expansion of Iberians from NW coastal communities in Spain after the Younger Dryas [ca 9700 BCE].The close genetic link between the Basques and Castlerea,Ireland,infers minimal "retained admixture" from the expansion of Neolithic male agriculturalists [ibid].
S Oppenheimer [2006] used Y chromosome SRR markers to reconstruct ancient population movements.Hg R was probably introduced to central Europe by the Gravettians from the Eastern Russian plains ca 30Ka ago..Today hg R1b and its 16 descendant lineages have an 86% frequency among the Basques.Some of these lineages expanded north from Iberia refugia after the Younger Dryas.The Y chromosome I1b2 followed a northern Mediterranean coastal route to the west.It contributed 41% to the present day Sardinian male gene pool,but only 6% to the Basques,who should have easily assimilated a relatively low percentage of newcomers.There has been a lower exchange of Y chromosomes between the western Basques and their neighbours,when compared to the degree of admixture to the east,where Basques and Aragon share the Ebro valley [M Iriande, 2003].Basques females were less restricted in their choice of partners [M Brian,2004].Galician G,M, and KM immunoglobian allotype allele frequencies indicate significantly large statistical variations between the Galicians and the Basques.The Guipuzean Basques are the most distinct [R Calderon,2007].
HLA hgs DR3-DQ2.5 and DR7-DO22 are common among the Basques and some west African populations.A29-Cw16-B44 occurs in west Africa,with a peak frequency among the Basques and a peak diversity in the Pasiegas valley.There appears to have been a time lag between the arrival of this genetic lineage in Iberia and its northward expansion,which could infer a slow dispersal through Iberia from north Africa prior to the Moor era.It has an appreciable component in the Pasiegas valley,which could be the site of recombination.This distinct feature suggests ancient admixture. There is A29-Cw16 disequilibrium among the Irish [P Deitiker,2008].
Collation of the available genetic data suggest, that the inhabitants of the present Basques Lands immediately after the end of the Younger Dryas ca 9700 BCE are the distant ancestors of the present day Basques.However subsequent influxes of newcomers over the interim have diluted and changed the original gene pool.The Basques identity is essentially determined by their unique language. Future genetic studies may contribute to solving the Basques enigmas.
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