In search of the pre- and post-neolithic genetic substrates in Iberia: evidence from Y-chromosome in Pyrenean populations.

The male-mediated genetic legacy of the Pyrenean population was assessed through the analysis of 12 Y-STR and 27 Y-SNP loci in a sample of 169 males from 5 main geographical areas in the Spanish Pyrenees: Cinco Villas (Western Pyrenees), Jacetania and Valle de Arán (Central Pyrenees) and Alto Urgel and Cerdaña (Eastern Pyrenees). In the Iberian context, the Pyrenean samples present some specificities, being characterizeded by a high proportion of chromosomes R1b1b2-M269 (including the usually uncommon R1b1b2d-SRY(2627) and R1b1b2c-M153 types) or I2a2-M26 and low proportions of other haplogroups. Our results indicate that an old pre-Neolithic substrate is preponderant in populations of the whole Pyrenean fringe. However, AMOVA revealed a high level of substructure within Pyrenean populations, partially explained by drift effects as well as by the signature of an ancient genetic differentiation between Western and Eastern Pyrenees.

Development of subcutaneous fat in Spanish and Latin American children and adolescents: Reference values for biceps, triceps, subscapular and suprailiac skinfolds.

Subcutaneous fat skinfolds represent a reliable assessment instrument of adiposity status. This study provides current percentile references for four subcutaneous skinfolds (biceps, triceps, subscapular, suprailiac) applicable to children and adolescents in Spain and in Latin American countries where data are scarce. The design consisted of a cross-sectional multicenter study performed with identical methods in 5 countries (Argentina, Cuba, Mexico, Spain and Venezuela). Total sample comprised 9163 children and youths (boys 4615 - girls 4548) aged 6-18 years, healthy and without apparent pathologies. Percentiles 3, 5, 10, 25, 50, 75, 90, 95 and 97 were calculated by the LMS method. Sexual dimorphism was assessed using the t-test and age differences with ANOVA. Normalized growth percentile references were obtained according to sex and age for each skinfold. The mean values of four skinfolds were significantly greater in girls than boys (p<0.001) and, in both sexes, all skinfolds show statistical differences through age (p<0.001) with different magnitudes. Except triceps in girls, peaks between 11 and 12 years of age are more noticeable in boys than in girls. Although the general model of growth is known, the skinfold measurements show variability among populations and differences of magnitude are presented according to the analyzed population. Therefore, these age and sex-specific reference percentile values for biceps, triceps, subscapular and suprailiac skinfolds, derived from a large sample of Spanish and Latin American children and adolescents, are a useful tool for adiposity diagnosis in this population for which no reference values were available.

Open ISEmeter: An open hardware high-impedance interface for potentiometric detection.

In this work, a new open hardware interface based on Arduino to read electromotive force (emf) from potentiometric detectors is presented. The interface has been fully designed with the open code philosophy and all documentation will be accessible on web. The paper describes a comprehensive project including the electronic design, the firmware loaded on Arduino, and the Java-coded graphical user interface to load data in a computer (PC or Mac) for processing. The prototype was tested by measuring the calibration curve of a detector. As detection element, an active poly(vinyl chloride)-based membrane was used, doped with cetyltrimethylammonium dodecylsulphate (CTA(+)-DS(-)). The experimental measures of emf indicate Nernstian behaviour with the CTA(+) content of test solutions, as it was described in the literature, proving the validity of the developed prototype. A comparative analysis of performance was made by using the same chemical detector but changing the measurement instrumentation.

C282Y and H63D mutation frequencies in a population from central Spain.

OBJECTIVES: To determine the frequency of hereditary hemochromatosis gene mutations, C282Y and H63D, from 125 autochthonous blood donors originating from a Central region of Spain, to provide epidemiological data about HFE gene in the Iberian Peninsula. METHODS: DNA extracted from blood samples was analyzed by PCR-RFLP. Restriction enzymes were Snab I and Bcl I for C282Y and H63D, respectively. Results were visualized with Ethidium Bromide staining after gel electrophoresis. RESULTS AND DISCUSSION: C282Y frequency was 0.02 and that of H63D was 0.16. Result for C282Y mutation falls within the range of variation of the Mediterranean populations. H63D frequency agrees with those reported for other European populations. In both cases frequencies obtained are the lowest of compared Spanish data. CONCLUSIONS: This study is useful to compare expected versus presented C282Y and H63D frequencies in Spanish populations and to contribute to the knowledge of Spanish variability, rarely analyzed until now for HFE gene mutations.

Dermatoglyphics of inhabitants of Alberche/Tormes valley (Sierra de Gredos-Central Spain): I. Finger pattern types and pattern intensity.

The incidence of dermatoglyphic finger patterns and pattern intensity in a sample of school children from the Alberche/Tormes valley (northern slope of the Sierra de Gredos, Central Spain) are described. Significant bilateral differences for the overall finger pattern incidence are found in both sexes. The differences between sexes are also statistically significant, except for the left hand. The Pattern Intensity Index significantly differs between hands of males only, and the sex differences are not significant. Variation ranges for fingertip patterns and pattern intensity were constructed using published data of 69 male and 62 female series drawn from the whole of the Iberian Peninsula. The overall incidence of fingertip patterns and the Pattern Intensity Index locate the studied population near the middle of the corresponding variation ranges. The only exception is the case of arches, for which Alberche/Tormes is close to the minimum value of the range of variation. A more detailed comparison of 10 male and 10 female series from the Spanish northern and southern plateaus and from the Spanish region of Extremadura was done with R-matrix analysis. The series compared include those from the northern slope (Alberche/Tormes valley, this study) and the southern slope (Tiétar valley) of the Sierra de Gredos. The observed degree of dermatoglyphic differentiation between these two series may be explained by taking into account both the role of the Sierra de Gredos as a biological barrier limiting gene flow and the evolutionary stability of dermatoglyphics. © 1996 Wiley-Liss, Inc.

Assortative mating in a Spanish population: effects of social factors and cohabitation time.

Assortative mating for 22 anthropometric and body composition characteristics and social indicators was studied in a Spanish sample of 114 married couples. Significant spousal similarity was found for occupation, educational level and number of siblings. Sex-age adjusted spouse correlations were significant for stature, ileospinal height, total arm length, and biacromial breadth. Spouse correlations were not altered after allowance for socioeconomic effects. When couples were grouped according to marriage duration, differences in mate correlations for fatness were detected, suggesting a cohabitational effect on spouse resemblance.

Heritabilities of morphological and body composition characteristics in a Spanish population.

Different estimates of heritability are presented for a set of anthropometric characteristics taken in 844 individuals from 261 families living in the Madrid city area (Spain). The data include measurements of 10 craniofacial, 11 body skeletal (4 lengths and 7 breadths), and 13 fat-related characteristics (weight, 3 circumferences, 6 skinfold thicknesses, body mass index and arm fat and arm muscle areas). The estimates computed from parent and offspring data show a clear defined pattern (higher heritabilities for longitudinal traits, followed by breadths, circumferences, and skinfolds, respectively). Heritabilities estimated from sib-sib correlation do not show such pattern and are generally higher than those assessed through parent-offspring data, mainly for fat related traits, which is attributed to common environment effects.

Blood group polymorphisms and geography in the Sierra de Gredos, Spain.

The present research is designed to contribute to our knowledge of the influence of geography on the genetic population structure in the Sierra de Gredos (central Spain). This mountain range separates two distinct areas: the Tormes-Alberche valley in the north and the Tiétar valley in the south. Unrelated blood donors (226), whose 4 grandparents were born in the study area, were tested for blood group markers (A1A2BO, RH, MNSs, Kell, P, and Lewis). R matrix analysis in relation to other Spanish populations agrees reasonably well with the cluster analysis of the Prevosti distance matrix using the UPGMA algorithm. Comparisons suggest a certain degree of genetic variation between the populations of these two valleys. The Sierra de Gredos can thus be considered a biological barrier limiting the gene flow between the valleys.

Inbreeding patterns in the Gredos Mountain Range (Spain).

The relationships among the frequency of consanguineous marriages, inbreeding coefficient, period, village size, and altitude are analyzed for three rural valleys belonging to the Sierra de Gredos (central Spain). These valleys occupy an area of about 30 x 80 km2, and the average total number of inhabitants for the period 1877-1970 was 58,621. Information about a sample of 23,744 weddings celebrated between 1875 and 1974 was obtained from 48 village parish registers. The mean inbreeding level up to second cousins for the whole area was 0.0012. A high percentage of inbreeding variation (83%) can be explained by each village's census size, resulting in a different interslope consanguinity pattern consisting of higher inbreeding levels in most northern localities in the Gredos mountains. This north-south geographic trend is consistent with results on blood polymorphisms from the same area (Mesa et al. 1994).

Serum protein polymorphisms (HP, TF-, GC- and PI subtypes) in two mountain communities of Sierra de Gredos (central Spain).

The genetic variation of four highly polymorphic serum proteins, haptoglobin (HP), transferrin (TF), group-specific component (GC) and alpha-1-antitrypsin (PI) was examined in two representative samples of the autochthonous populations living on either slope of Sierra de Gredos in central Spain. The genetic markers studied do not provide any evidence that the mountain chain has contributed to the maintenance of a genetic differentiation between the two populations. The allele frequency distributions in these Gredos samples are discussed in relation to the variability of these markers in the Iberian Peninsula populations.

Body composition of rural and urban children from the central region of Spain.

Body composition components are considered in a cross-sectional sample of 2564 children (age range 6-14 years) from Central Spain. The sample was divided depending on rural or urban residence. Weight, and skinfold at the triceps, biceps, subscapular and suprailiac site were measured. Body composition was represented by percentage fat (%F), lean body mass (LBM), fat mass (FM) and sum of skinfolds (SSK). Sex differences were found to be highly significant for all variables and rural-urban differences were small. Rural boys show slightly larger fat content, in %F, FM and SSK, than their urban peers, but significant (p < 0.05) differences appear only for SSK. No statistically significant environmental effect was found for LBM. The improvement of living conditions, the urban influence on the rural area and the degree of urbanization of the urban settlement are suggested as the main determinants influencing obtained results.

Trend in menarcheal age in Spain: rural and urban comparison during a recent period.

Menarcheal age of a sample of rural (n = 342) and urban (n = 469) girls with ages ranging from 9 to 16 years from Madrid province was analysed. Results, obtained through the status quo method and probit analysis (age 12.79 SD 1.04 in Madrid city and 12.90 SD 1.03 in rural sample), were compared with data from previous studies carried out in the same area, as well as those from other regions of the Iberian Peninsula. The aim of these comparisons was to establish the variability of menarche in the recent past, considering physical environment, degree of urbanization and socio-economic development. Decline in menarcheal age was detected and, in general, a tendency towards similar means among Spanish populations in the period studied.

Red-green colour blindness in the Tormes-Alberche Valley (Avila-Central Spain).

A population from a Central Spanish region (Tormes-Alberche Valley) has been investigated for the presence of red-green colour vision defects. A sample of 998 subjects (469 male and 529 female) was analyzed. To identify colour vision defects, Ishihara test plates were used. The red-green colour blindness percentage obtained was 4.69 +/- 0.976% for males (2.13% protan and 2.56% deutan types) and none of the females tested were found to be colour blind. These results are within the variation range of Mediterranean populations and lower than the usual frequencies among non-Mediterranean European samples.

Variability of six STR loci in populations from Central Spain.

Allele frequency distributions of six short tandem repeat (STR) loci, HUMTH01, HUMFES/FPS, HUMTPOX, HUMVWF/A31, HUMF13B, and HUMLPL, were determined in a population (101 individuals) of the Vera-Jerte region in West Central Spain. Amplified products were electrophoresed on denaturing polyacrylamide gels and silver-stained. The exact test demonstrated that none of the six loci deviated from Hardy-Weinberg equilibrium. R-matrix analysis in relation to other European samples agrees well with genetic distance results of Reynolds et al. (1983). Comparisons show that our population comes reasonably well within the range of variation of other European samples, and that the representation of these samples on the genetic map indicates a close relation between geographical location and distribution in the diagram.