Structuring the Genetic Heterogeneity of the Basque Population: A View from Classical Polymorphisms

Manzano, Carmen; Rúa, Concepción de la; Iriondo, Mikel; Mazon, L. I.; Vicario, A.; Aguirre, A.

doi:10.1353/hub.2002.0008

Cited by 22 publications

(27 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Levine et al stated in 1977 that the KEL*1 frequency in the Basques was one of the lowest among the European populations (Levine et al, 1977). However, further studies (Manzano et al, 1996a(Manzano et al, , 2002 and our result disagree with this conclusion. On the contrary, Mourant found, like us, a rather high frequency of KEL*1 which was interpreted as a marker of genetic isolates (Mourant et al, 1976).…”

Section: Kellcontrasting

confidence: 91%

DNA‐based typing of Kell, Kidd, MNS, Dombrock, Colton, and Yt blood group systems in the French Basques

Touinssi

Chiaroni

Degioanni³

et al. 2008

American J Hum Biol

View full text Add to dashboard Cite

The Basques demonstrate peculiar characteristics regarding blood group systems. Although ABO, Rhesus, and Duffy have been extensively studied in this population, the distribution of other groups remains largely unknown. Therefore, we evaluated the frequency of less-explored- or still noninvestigated blood groups using DNA-based assays and interpreted these data in the view of population genetics. Polymorphisms of KEL (Kell), SLCA14A1 (Kidd), GYPA/GYPB (MNS), ART4 (Dombrock), AQP1 (Colton), and ACHE (Yt) blood group genes were determined from a sample of more than 100 autochthonous French Basques using allele-specific primer PCR (PCR-ASP) methods. Our results were compared with those previously obtained by the use of serology from both Basque and non-Basque European populations. MNS*1 and JK*1 allele frequencies were comparable with those reported from Basque samples. Conversely, the KEL*1 allele frequency differed significantly. To our knowledge, this is the first time that the other three systems are studied in the Basque population. DO*1 and CO*1 allele frequencies, being respectively 0.35 and 0.96, were significantly inferior to those published from various European populations. There were some discrepancies regarding these six blood systems when comparing molecular typing with serology. These findings may be explained by differences in either criteria for individual selection or technical assays. Nevertheless, these results constitute additional data to be included in the chapter of Basque biological anthropology.

show abstract

Section: Kellcontrasting

confidence: 91%

DNA‐based typing of Kell, Kidd, MNS, Dombrock, Colton, and Yt blood group systems in the French Basques

Touinssi

Chiaroni

Degioanni³

et al. 2008

American J Hum Biol

View full text Add to dashboard Cite

show abstract

“…First, it has been found in this people a high frequency of O and conversely one of the lowest frequency of B among human populations [3]. The high prevalence of Rhesus (Rh) negative in Basques (35.6%) was first described in 1945 by Etcheverry among emigrants in Argentina [4], and this picture was later confirmed, although with less important percentages, in other Basque samples [5][6][7][8][9][10][11]. These data were obtained using serologic typing and one could speculate Touinssi/Chiaroni/Degioanni/De Micco/ Dutour/Bauduer on a possible lack of accuracy of this technique in the molecular biology era.…”

Section: Introductionmentioning

confidence: 79%

“…Furthermore, as stated previously [14], the cDE (R2) frequency was among the lowest in Europe and within the range of those from the various Basque subpopulations except the province of Alava in which the frequency exceeded 0.1 (table 3). Hence, variations in Rh polymorphism are encountered among the Basque subpopulations and therefore this people must probably not be considered as a whole as demonstrated for other biological markers [9][10][11]15]. Alava seems to demonstrate the less 'biological Basqueness' regarding Rh polymorphism.…”

Section: Discussionmentioning

confidence: 97%

Distribution of Rhesus Blood Group System in the French Basques: A Reappraisal Using the Allele-Specific Primers PCR Method

Touinssi

Chiaroni

Degioanni³

et al. 2004

Hum Hered

View full text Add to dashboard Cite

Objectives: To determine for the first time using PCR the distribution of Rhesus (Rh) blood group in French Basques and compare these results with those obtained by serology in the same sample and in the historical series from various Basque subgroups. Methods: Rh polymorphism was determined in a sample of 127 autochthonous French Basques using allele-specific primers (ASP) PCR and traditional serological technique. Statistical comparisons were performed between both techniques and with the data published from various Basque subpopulations. Results: No intra-sample discrepancies were detected between ASP-PCR and serology. A high frequency of RH Ddel exceeding 0.50, as typically described from several decades, was found here (0.511), as the peculiar frequency of cde (0.456) and cDE (0.073) haplotypes. This profile, obtained by molecular analysis, was within the range of previous historical studies in various Basque subpopulations using serological approach. The Rh polymorphism among the reviewed autochthonous Basque samples indicates a heterogeneous pattern of distribution, with individuals from the Alava province demonstrating the most atypical profile. Conclusions: Molecular biology approach using PCR confirms the peculiar pattern of Rh polymorphism which was previously defined by serology among Basques. Nevertheless, this distribution profile is not homogeneous within the Basque area.

show abstract

“…Ancient population subdivision can also account for the spatial genetic heterogeneity reported in many previous polymorphism studies on autochthonous Basques (Manzano et al, 2002;Iriondo et al, 2003;Pérez-Miranda et al, 2003.…”

Section: Mitochondrial Haplogroup Diversity In Basquesmentioning

confidence: 88%

Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms

Alfonso‐Sánchez

Cardoso

Martínez-Bouzas

et al. 2008

American J Hum Biol

View full text Add to dashboard Cite

This study provides a more complete characterization of the mitochondrial genome variability of the Basques, including data on the hypervariable segment HVII of the D-loop region, which remains relatively unknown. To that end, genomic DNA from 55 healthy men living in the Arratia Valley (Biscay province) and the Goiherri region (Guipúzcoa province) was examined by direct sequencing. Three-generation pedigree charts were compiled to ensure the collection from autochthonous individuals. The most notable findings emerging from the analysis of haplogroup composition are: (i) lack of U8a mitochondrial lineage, a rare subhaplogroup recently identified in Basques and proposed as a Paleolithic marker, (ii) low frequency of haplogroup V, which conflicts with results of earlier analyses describing high frequencies in southwestern Europe, and (iii) high frequency of haplogroup J, especially subhaplogroups J1c1 and J2a. The frequency of haplogroup J does not coincide with previous mtDNA studies in present-day Basques, but is congruent with frequencies found in prehistoric and historic Basque populations. In explaining divergence in haplogroup composition between modern Basque samples, we hypothesized spatial heterogeneity promoted by population fragmentation due to extreme limitation of dispersal opportunities during the Pleistocene glaciations. Similarities between extinct and extant Basque populations as for the high frequency of lineage J, as well as the abundance of this haplogroup in northern Spain endorse a shift in the focus of attention of mtDNA analysts. A refined dissection of haplogroup J might provide more solid evidence about the process of postglacial recolonization of Europe, and thus about the shaping of the European gene pool.

show abstract

Structuring the Genetic Heterogeneity of the Basque Population: A View from Classical Polymorphisms

Cited by 22 publications

References 43 publications

DNA‐based typing of Kell, Kidd, MNS, Dombrock, Colton, and Yt blood group systems in the French Basques

DNA‐based typing of Kell, Kidd, MNS, Dombrock, Colton, and Yt blood group systems in the French Basques

Distribution of Rhesus Blood Group System in the French Basques: A Reappraisal Using the Allele-Specific Primers PCR Method

Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms

Contact Info

Product

Resources

About