Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome. The most common cause of non-syndromic, microcytic sideroblastic anemia is a defect in the X-linked 5-aminolevulinate synthase 2 gene but this is not always present. Recently, variations in the gene for the mitochondrial carrier SLC25A38 were reported to cause a non-syndromic, severe type of autosomal-recessive sideroblastic anemia. Further evaluation of the importance of this gene was required to estimate the proportion of patients affected and to gain further insight into the range and types of variations involved

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.

In this work, a sample of 112 individuals from an autochthonous Basque population (Northern Navarre, Spain) were typed at the DNA level for the HLA-DQA1 locus, with the aim of characterizing its polymorphism and analyzing the genetic relationships of Basque Navarrese with other Caucasian populations. Northern Navarre is a neighboring area with Guipúzcoa, a province located in the core of the Basque territory having the highest proportion of Basque-speakers. In Navarrese population, the most frequent alleles were DQA1*01 (0.375) and DQA1*02 (0.259). Frequency clines for both DQA1*0103 allele and DQA1*04* allele cluster (including DQA1*0401, DQA1*0501 and DQA1*0601) among the European and Mediterranean populations considered are reported for the first time. Furthermore, a spatial structuring previously described for DQA1*02 allele is corroborated. The information provided by the highly polymorphic HLA-DQA1 locus was stressed by using genetic distances and non-metrical multidimensional scaling (MDS). The analysis of genetic relationships among populations showed a high genetic affinity between the Basque subpopulations of Northern Navarre and Guipúzcoa, which in turn tended to plot separately from the remaining European and Mediterranean populations. In the same way, the Basques showed no clear relationship to North African populations, as postulated in several previous HLA studies. The observed genetic heterogeneity seems to be conditioned by the high frequencies of the DQA1*02 allele in Basques from Guipúzcoa and North Navarre. These two subpopulations seem to show low levels of admixture with other non-Basque neighboring populations, probably because of their deeply rooted ethnicity and the existence of a linguistic barrier to random mating.

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Background: Somatotype, as an indirect measure of estimating body composition, provides an easy and comprehensive picture of body shape. Multiple investigations have shown the existence of an association between somatotype components and cardiovascular disease. Objective: The aim of the present study was to examine the association of somatotype with blood pressure during ageing. Methods: The Heath-Carter anthropometric somatotype and both systolic (SBP) and diastolic (DBP) blood pressures were recorded. The sample included 809 healthy institutionalized elders (370 males and 439 females) from geriatric units in Caracas, Venezuela. Ages ranged from 60 to 102 years. Product-moment correlation coefficients between somatotype components and both blood pressure readings were calculated. Principal component analysis and homogeneity analysis by means of alternative least squares tests were also performed. Results: Females were more endomorphic and mesomorphic than males. Males were more ectomorphic than females. SBP showed a downward tendency with age in males, while in females the tendency was for the SBP to increase. Correlations among variables were from low to moderate and ranged from –0.37 to +0.34 in males, and from –0.18 to +0.32 in females. Correlations tended to be stronger in the younger age group and differences between sexes were found. A negative tendency in the correlation between ectomorphy and both SBP and DBP was found, except for the oldest age group, for which the correlation was positive. Endomorphy and mesomorphy showed a stable correlation pattern with blood pressure in males, while in females this pattern was more irregular and less consistent. Conclusion: Individuals with high levels of SBP and DBP had mean somatotypes, which were similar to those of other male groups characterized by myocardial infarct, coronary heart disease and the risk of hypertension, indicating that these somatotypes may be associated with cardiovascular risk factors. In particular, our results indicate that individuals who present a cardiovascular risk profile are more endomorphic and mesomorphic and less ectomorphic than those with a lower cardiovascular risk profile.