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Biomedical subjects

A Carracedo

Publications and source records attributed to A Carracedo.

At least 145 records · Page 8Linked to original sources

Isoelectric focusing patterns of some mammalian keratins.

An isoelectric focusing method followed by silver staining has been used for the study of keratins from a total of 97 individuals belonging to 17 families and 39 species. The method distinguishes perfectly between two different animal species. In addition, there are often considerable differences between breeds and even occasionally slight individual differences which in no way impede the identification of a particular species as such.

Animals↗

Genetic polymorphism of GPT and GLO-I in Galicia (northwest Spain): a comparative study.

GPT and GLO-I phenotypes were determined by means of isoelectric focusing and starch gel electrophoresis, respectively, in a sample of the Galician population (Northwest Spain); GPT: n = 302, GLO-I: n = 500. The gene frequencies come to: GPT1 = 0.5099, GPT2 = 0.4901; GLO1 = 0.4930, GLO2 = 0.5070. No rare variants were found. The Galician gene frequencies are compared with those obtained on other populations from different parts of the world.

Alanine Transaminase↗

Distribution of the Pi, TfC, and Gc subtypes in Galicia (North West Spain).

Alpha 1-antitrypsin (Pi), Gc, and TfC subtypes were determined by isoelectric focusing in thin layer agarose (AGIF) and polyacrylamide gels (PAGIF) in a total of 480 individuals from Galicia. The following gene frequencies were observed: for Pi:PiM1:0.660; PiM2:0.115; PiM3:0.060; PiS:0.149; PiZ:0.009; PiF:0.005; PiI:0.001; for Gc:Gc1S:0.572; Gc1F:0.120; Gc2:0.308; for TfC: TfC1:0.778; TfC2:0.180; TfC3:0.041; TfC6:0.001. A rare variant TfC6-2 was found and the intrafamilial distribution of the TfC6 allele studied. The use of these systems for forensic purposes and the peculiar distribution of some of their alleles in the Galician population are discussed.

Adult↗

PGM1 subtypes in Galicia (NW Spain).

A total of 1,086 individuals from Galicia have been typed for red cell PGM1 using isoelectric focusing in polyacrylamide and agarose gels. The frequency of the four alleles at the PGM1 locus was found to be PGM11+ : 0.6211, PGM11- : 0.1137, PGM12+ : 0.2109, and PGM12- : 0.0543.

Blood Protein Electrophoresis↗

New method to measure minisatellite variant repeat variation in population genetic studies.

The classical analysis of minisatellite variant repeat (MVR) variation using modular structures is limited by the lack of knowledge of the mutational process involved in the evolution of most of the minisatellites. In this study a new method to measure MVR variation and to calculate genetic distances using MVR codes is proposed. The method is based on the statistical similarity of MVR patterns and considers the complete variability of the minisatellite, enabling meaningful comparisons of closely related populations. As an example, the method has been applied to analyze variation in MSY1 (DYF155S1) in five sets of data from European and North African populations.

Genetic Markers↗

A silver staining method for the detection of polymorphic proteins in minute bloodstains after isoelectric focusing.

A silver staining method has been developed to study polymorphic proteins in bloodstains after isoelectric focusing. This method is highly sensitive and permits the detection of polymorphic proteins (i.e. alpha 1-antitrypsin, Gc and Tf C subtypes) in bloodstains as small as 0.2 microliter or less. The method is simple and reproducible and can be used after immunofixation. Blood stains can be identified after longer storage periods than is possible by using conventional staining methods.

Blood Proteins↗

The isoelectric focusing of keratins in hair followed by silver staining.

An isoelectric focusing method followed by silver staining has been developed for the study of keratins which is as effective as two-dimensional electrophoresis and fluorography for hair species identification. Hair from dogs, rabbits, horses, cows, guinea-pigs, donkeys, sheep and cats were successfully identified. Narrow pH ranges were used to observe heterogeneity in human hair. Although this heterogeneity may be affected by environmental conditions, it may be of use in criminalistics.

Animals↗

mtDNA analysis of the Galician population: a genetic edge of European variation.

Analysis of mitochondrial DNA (mtDNA) variation has become a useful tool for human population studies. We analysed the first hypervariable region of mitochondrial DNA control region (position 16024-16383) in 92 unrelated individuals from Galicia (Spain), a relatively isolated European population at the westernmost continental edge. Fifty different sequences defined by 56 variable positions were found. The frequency of the reference sequence reaches in Galicians its maximum value in Europe. Moreover, several genetic indexes confirm the low variability of our sample in comparison to data from 11 European and Middle Eastern populations. A parsimony tree of the sequences reveals a high simplicity of the tree, with few and small well defined clusters. These results place Galicians on the genetic edge of the European variation, bringing together all the traits of a cul-de-sac population with a striking similarity to the Basque population. The present results are fully compatible with a population expansion model in Europe during the Upper Paleolithic age. The genetic evidence revealed by the analysis of mtDNA shows the Galician population at the edge of a demographic expansion towards Europe from the Middle East.

Base Sequence↗

Application of pelletized sodium borohydride in the spectrophotometric determination of arsenic.

The spectrophotometric determination of arsenic using sodium borohydride in pellet form, with excipients as the reducing agent and arseine former, has been studied. The use of pelletized sodium borohydride allows the formation of arsenic diethyldithiocarbamate and enables an accurate application of the method without the use of other reagents. The gradual reducing action of the pelletized sodium borohydride, together with the release of hydrogen thus forming arsine with As(III), is the main advantage of this procedure. The arsine thus formed bubbles through the chloroform solution of silver diethyldithiocarbamate to form the complex that allows the determination of the arsenic by visible spectrophotometry.

Animals↗

160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa.

Mutations in the rhodopsin gene were studied in 23 unrelated Spanish patients with sporadic retinitis pigmentosa (RP). A codon 160 Thr C-->A transition was found in 4 of the 23 patients vs. none of the 159 controls (p < 0.001) suggesting that this mutation may be an informative marker in RP.

Exons↗

Two different genetic markers for high and low myopia.

In myopia patients, Rh and acid phosphatase were typed in two groups: group 1 consisted of 214 patients with low myopia (-6 D or less); group 2 of 124 patients with high myopia (more than -6 D). Statistical analysis of the markers showed a good Hardy-Weinberg equilibrium for both groups. In the Rh system there was a significant difference between group 1 and the control population (p < 0.05), but not between group 2 and control (p > 0.1). In the case of ACP there was a significant difference between group 2 and the control population (p < 0.05), but not between group 1 and control (p > 0.25). We conclude that the observed association between myopia and Rh system (chromosome 1) involves low myopia, while the association between myopia and acid phosphatase (chromosome 2) involves high myopia. Further DNA research will lead to more specific results.

Acid Phosphatase↗