Detección del déficit de alfa-1 antitripsina: estudio en pacientes con enfermedad pulmonar obstructiva crónica diagnosticados en atención primaria / Detection of alpha-1 antitrypsin deficiency: a study on patients diagnosed with chronic obstructive pulmonary disease in primary health care

La enfermedad pulmonar obstructiva crónica (EPOC) tiene una prevalencia en España del 10,2%. El principal factor etiológico es el tabaco. La exposición al humo de biomasa y el déficit de alfa-1 antitripsina (DAAT) también se relacionan con su desarrollo. El DAAT es una condición genética en la que subyace el 2-3% de los pacientes con EPOC. El objetivo de este estudio descriptivo transversal fue descartar el DAAT en pacientes con EPOC del CS Culleredo, A Coruña. Para ello se realizó la prueba de la gota de sangre gruesa en papel secante y el estudio de variantes PI*S y PI*Z del gen SERPINA1 mediante análisis de curvas de desnaturalización tras amplificación simultánea por reacción en cadena de la polimerasa. El estudió analizó 80 pacientes entre 40-80 años. Un 30% eran portadores de un alelo deficitario en heterocigosis, que en el 80% de ellos se trataba del alelo S. Se detectó un caso PiSZ (1,25%) y ninguno PiZZ. Esto representa una frecuencia alélica de 3,1% para el PiZ y 13,1% para el PiS. Las frecuencias alélicas detectadas son superiores a las descritas previamente para la población española. Este trabajo excluye el déficit grave de AAT en el 98,75% de la población estudiada. El caso con genotipo Pi*SZ fue diagnosticado en una fase precoz de la enfermedad. El estudio cumple con uno de los indicadores de calidad asistencial recomendados por GesEPOC y constata una elevada frecuencia alélica PiS y PiZ en la zona, que será referencia de futuros estudios en Galicia (AU)

The prevalence of chronic obstructive pulmonary disease (COPD) in Spain is 10.2%. Although tobacco is the main aetiological factor, biomass smoke exposure and alpha-1 antitrypsin deficiency (AATD) have also been related to its development. AATD is a genetic condition which could be causing 2-3% of COPD cases. The aim of this cross-sectional descriptive study was to exclude the existence of AATD in a population of COPD patients from CS Culleredo, A Coruña. The thick blood drop test on blotting paper, as well as the analysis of the mutations PI*S and PI*Z of the gene SERPINA 1 by the analysis of denaturing gradients after simultaneous amplification related to PCR (polymerase chain reaction). The study population included 80 patients between 40-80 years old, of whom 30% were carriers of a deficient allele (heterozygous), and 80% of them were the allele PiS. Only one PiSZ (1.25%) individual and no PiZZ was detected. This represents an allelic frequency of 3.1% (PiZ), and 13.1% (PiS). The detected allelic frequencies are higher than previously reported in the Spanish population. Severe AATD has been excluded in 98.75% of the study population. The Pi*SZ patient has been diagnosed in an early stage of the disease. We have also achieved one of the quality indicators recommended by GesEPOC. Our area has shown a high PiS and PiZ frequency, thus our study could be used as a reference for further research in the Galician population (AU)

[Detection of alpha-1 antitrypsin deficiency: A study on patients diagnosed with chronic obstructive pulmonary disease in primary health care]. / Detección del déficit de alfa-1 antitripsina: estudio en pacientes con enfermedad pulmonar obstructiva crónica diagnosticados en atención primaria.

The prevalence of chronic obstructive pulmonary disease (COPD) in Spain is 10.2%. Although tobacco is the main aetiological factor, biomass smoke exposure and alpha-1 antitrypsin deficiency (AATD) have also been related to its development. AATD is a genetic condition which could be causing 2-3% of COPD cases. The aim of this cross-sectional descriptive study was to exclude the existence of AATD in a population of COPD patients from CS Culleredo, A Coruña. The thick blood drop test on blotting paper, as well as the analysis of the mutations PI*S and PI*Z of the gene SERPINA 1 by the analysis of denaturing gradients after simultaneous amplification related to PCR (polymerase chain reaction). The study population included 80 patients between 40-80 years old, of whom 30% were carriers of a deficient allele (heterozygous), and 80% of them were the allele PiS. Only one PiSZ (1.25%) individual and no PiZZ was detected. This represents an allelic frequency of 3.1% (PiZ), and 13.1% (PiS). The detected allelic frequencies are higher than previously reported in the Spanish population. Severe AATD has been excluded in 98.75% of the study population. The Pi*SZ patient has been diagnosed in an early stage of the disease. We have also achieved one of the quality indicators recommended by GesEPOC. Our area has shown a high PiS and PiZ frequency, thus our study could be used as a reference for further research in the Galician population.

Species relations among wild Arachis species with the A genome as revealed by FISH mapping of rDNA loci and heterochromatin detection.

Section Arachis of the homonymous genus includes 29 wild diploid species and two allotetraploids (A. monticola and the domesticated peanut, A. hypogaea L.). Although, three different genomes (A, B and D) have been proposed for diploid species with x = 10, they are still not well characterized. Moreover, neither the relationships among species within each genome group nor between diploids and tetraploids (AABB) are completely resolved. To tackle these issues, particularly within the A genome, in this study the rRNA genes (5S and 18S-26S) and heterochromatic bands were physically mapped using fluorescent in situ hybridization (FISH) in 13 species of Arachis. These molecular cytogenetic landmarks have allowed individual identification of a set of chromosomes and were used to construct detailed FISH-based karyotypes for each species. The bulk of the chromosome markers mapped revealed that, although the A genome species have a common karyotype structure, the species can be arranged in three groups (La Plata River Basin, Chiquitano, and Pantanal) on the basis of the variability observed in the heterochromatin and 18S-26S rRNA loci. Notably, these groups are consistent with the geographical co-distribution of the species. This coincidence is discussed on the basis of the particular reproductive traits of the species such as autogamy and geocarpy. Combined with geographic distribution of the taxa, the cytogenetic data provide evidence that A. duranensis is the most probable A genome ancestor of tetraploid species. It is expected that the groups of diploid species established, and their relation with the cultigen, may aid to rationally select wild species with agronomic traits desirable for peanut breeding programs.