New data on blood groups and other inherited factors in Europe and Egypt

Boyd, William C.; Boyd, Lyle G.

doi:10.1002/ajpa.1330230106

Cited by 46 publications

(16 citation statements)

References 19 publications

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“…The first genetic data available, on the ABO blood groups, demonstrated a striking lack of the B allele among the Basques (Boyd and Boyd, 1937). Mourant (1947Mourant ( ,1983 used additional blood-group data to confirm the genetic distinctiveness of the Basques and support the hypothesis of their antiquity.…”

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confidence: 81%

“…among the peoples of the Iberian Peninsula (Boyd and Boyd, 1937;Mourant, 1947) concluded that the linguistically isolated Basques are also genetically differentiated from the surrounding populations. This conclusion has since been supported by wideranging studies utilizing synthetic maps of the major principal components of allele frequencies at many different loci (Bertranpetit and Cavalli-Sforza, 1991).…”

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confidence: 98%

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Principal component analysis of gene frequencies and the origin of Basques

Calafell

Bertranpetit

1994

American J Phys Anthropol

106

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The genetic peculiarity of the Basque population has long been noted. We aim to describe Basque distinctiveness in space and assess the internal Basque heterogeneity. All these aspects are relevant to the question of the origin of Basques. After a thorough literature search, a data base was created containing all the available data on gene frequencies in the Iberian Peninsula and France. Twenty-nine systems, comprising 71 alleles, were used to carry out a principal component (PC) analysis. The results show a sharp peak in the first PC in the Basque area, which remains even when the geographic scope is widened to include western Europe. As demonstrated by "wombling" analysis, the steeper slope in the first PC is found to the east of the Basque area, along the Pyrenees. Measures of genetic heterogeneity (such as FST values) within the Basque country, as compared to those for non-Basques, do not show a particular internal substructuration in the Basque population. The genetic results support a scenario in which the Basques are the product of in situ differentiation around the time of the Last Glacial Maximum (18,000 B.P.), in agreement with archaeological and linguistic data. Isolation from the surrounding populations has allowed the differentiation to last for millennia, but has erased the differences existing among Basques.

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confidence: 81%

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confidence: 98%

Principal component analysis of gene frequencies and the origin of Basques

Calafell

Bertranpetit

1994

American J Phys Anthropol

106

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“…In the biological anthropology literature, the Basque population has been studied using craniometrics (Broca 1864;Calafell and Bertranpetit 1994), linguistics (Trask 1997), blood group antigens (Boyd and Boyd 1937;Chalmers et al 1948;Chalmers et al 1949;Etcheverry 1945;Levine 1977;Levine et al 1974;MacClancy 1993;Mourant 1948), erythrocytic enzymes (Aguirre et al 1989;Aguirre et al 1991;Manzano et al 1996), plasma proteins (Manzano et al 1993), HLA antigens and haplotypes (Calderon et al 1998;Dugoujon et al 1989;Esteban et al 1998;Hazout et al 1991), autosomal STRs (Alonso et al 1995;Arrieta et al 1997;Garcia et al 1998;Garcia et al 2001;Iriondo et al 1997;Iriondo et al 1999;Perez-Lezaun et al 2000;Perez-Miranda et al 2005a;Perez-Miranda et al 2005b;Zlojutro et al 2006), mitochondrial haplogroups and sequences (Alfonso-Sanchez et al 2008;Alzualde et al 2006;Alzualde et al 2005;Bertranpetit et al 1995;Corte-Real et al 1996;Garcia et al 2011;Gonzalez et al 2003;Gonzalez et al 2006;Izagirre and de la Rua 1999), and Y-chromosome markers …”

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confidence: 99%

Paternal Genetic History of the Basque Population of Spain

et al. 2011

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“…However, there is a sizeable number of publications which report that the Basques have gene frequencies that are notably different from the expected ones for a population theoretically inserted-according to geographic location-within the European genetic landscape. In such studies, a wide range of genetic markers have been analyzed, including blood group systems ABO (Boyd and Boyd 1937), Rh (Etcheverry 1945) and Duffy (Levine et al 1977), some Y-chromosome DNA haplotypes (Lucotte and Hazout 1996), mtDNA haplogroups (Torroni et al 1998(Torroni et al , 2001, immunoglobulin allotypes (Calderó n et al 1998), HLA class-II genes (Pé rez-Miranda et al 2003 and autosomal STRs (Pé rez-Miranda et al 2005), among others. Specifically within the scope of the Basque area, the bulk of the population genetic studies identify spatial substructuring of the Basque gene pool (Goedde et al 1972(Goedde et al , 1973Aguirre et al 1991;Calderó n et al 1998;Pé rez-Miranda et al 2003, among others), although this topic has been questioned in a few publications (Calafell and Bertranpetit 1994;Comas et al 1998).…”

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confidence: 99%

Polymorphic Alu insertions and the genetic structure of Iberian Basques

et al. 2007

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Eight Alu sequences (ACE, TPA25, PV92, APO, FXIIIB, D1, A25 and B65) were analyzed in two samples from Navarre and Guipú zcoa provinces (Basque Country, Spain). Alu data for other European, Caucasus and North African populations were compiled from the literature for comparison purposes to assess the genetic relationships of the Basques in a broader geographic context. Results of both MDS plot and AMOVA revealed spatial heterogeneity among these three population clusters clearly defined by geography. On the contrary, no substantial genetic heterogeneity was found between the Basque samples, or between Basques and other Europeans (excluding Caucasus populations). Moreover, the genetic information obtained from Alu data conflicts with hypotheses linking the origin of Basques with populations from North Africa (Berbers) or from the Caucasus region (Georgia). In order to explain the reduced genetic heterogeneity detected by Alu insertions among Basque subpopulations, values of the Wright's F ST statistic were estimated for both Alu markers and a set of short tandem repeats (STRs) in terms of two geographical scales: (1) the Basque Country, (2) Europe (including Basques). In the Basque area, estimates of Wahlund's effect for both genetic markers showed no statistical difference between Basque subpopulations. However, when this analysis was performed on a European scale, F ST values were significantly higher for Alu insertions than for STR alleles. From these results, we suggest that the spatial heterogeneity of the Basque gene pool identified in previous polymorphism studies is relatively recent and probably caused by a differential process of genetic admixture with nonBasque neighboring populations modulated by the effect of a linguistic barrier to random mating.

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New data on blood groups and other inherited factors in Europe and Egypt

Cited by 46 publications

References 19 publications

Principal component analysis of gene frequencies and the origin of Basques

Principal component analysis of gene frequencies and the origin of Basques

Paternal Genetic History of the Basque Population of Spain

Polymorphic Alu insertions and the genetic structure of Iberian Basques

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