Genetic polymorphisms of the Basques from Gipuzkoa: genetic heterogeneity of the Basque population

Abstract

A random sample of 586 Basque individuals from the province of Gipuzkoa was studied for 16 genetic systems: A1A2B0, Rh, MNSs, P, Lewis, Duffy, Kell, GC, TF, AAT, ACP, AK, ADA, ESD, HP and PGM1. The results of this study indicate that the Basque population of Gipuzkoa presents certain differential values with respect to other Basque series, such as maximum values for RH*cde, AK*2 and PGM1*2+ and minimum for PGM1*1-, while the remaining alleles are located within the range of values found in the Basque population to date. It is suggested that there is intraprovincial heterogeneity, as described for Bizkaia by Aguirre et al. in 1991, and the existence of heterogeneity within the Basque population on an inter-provincial level, backing up previous studies in this respect (by Aguirre et al. in 1989 and Manzano et al. 1993).

Genetic diversity in Northern Spain (Basque Country and Cantabria): GM and KM variation related to demographic histories

“…The GM haplotype distribution in Guipúzcoa denotes a relatively specific position for this population (see Figure 2) 15,19 The most striking differences from Alava are a significant absence of GM*1,17;. .…”

“…;5*, 26,27 and GM*3; 23; 5*, 26,27. Likewise, through the determination of the G3M (6,15,16,24), African haplotypes can be accurately distinguished from those originating in western Asia. This paper deals with GM and KM diversity in three Spanish populations.…”

“…In relation to GM and KM variation in Europe (Table 5) 10,11,13,15,16, particularly common in Asian populations 5 but rare or absent in most of North and Central Europe, was found in the three populations examined, the Guipúzcoa and Montes de Pas values lying among the highest so far described in Europe and North Africa (Table 5). [38].…”

“…Serum samples were typed for 16 GM allotypes belonging to the three IgG subclasses G1M(1,2,3,17), G2M(23), G3M (5,6,10,11,13,14,15,16,21,24,28) and for the KM(1) allotype, according to the standard agglutination inhibition method. 22 The reagents used are listed in Table 1.…”

“…Several studies 14,15 have suggested a certain degree of genetic heterogeneity, the main subdivision being between North (Guipúzcoa and Vizcaya provinces) and South (Alava province). This differentiation agrees with the geographical subdivision established by the mountain range that constitutes the watershed, and is consistent with other archaeological, 16 ethnological 17 and skeletal 18 differentials.…”