Estudio epidemiológico de malformaciones mayores congénitas detectadas en el periodo prenatal y neonatal en una población

Se trata de un estudio retrospectivo, de tipo observacional en el que se incluyen dos grupos de pacientes. El primer grupo engloba los fetos diagnosticados de malformación prenatalmente, considerando que la posible fecha de parto se incluyera en el periodo de 2010 al 2012. El segundo grupo incluye los recién nacidos con malformación entre el 1 de Enero de 2010 al 31 de Diciembre de 2012, pudiendo estar alguno de estos pacientes incluidos en el primer grupo a estudio. Se recogen los pacientes diagnosticados prenatalmente por el Servicio de Obstetricia del Hospital Clínico Universitario “Lozano Blesa” de Zaragoza y los recién nacidos vivos diagnosticados por el Servicio de Pediatría Neonatología de este mismo hospital que presentaron malformación congénita

Development and marker-trait relationships of functional markers for glutamine synthetase GS1 and GS2 homoeogenes in bread wheat

16 Pág.GS1 and GS2 genes encode, respectively, the main cytosolic and the plastidic isoforms of glutamine synthetase (GS). In the present study, the wheat GS1 and GS2 homoeogenes located in the A, B and D genome chromosomes have been sequenced in a group of 15 bread wheat varieties including landraces, old commercial varieties and modern cultivars. Phenotypic characterization by multi-environment field trials detected significant effects of specific GS homoeogenes on three of the seven agronomic and grain quality traits analyzed. Based on the gene sequence polymorphisms found, biallelic molecular markers that could facilitate marker-assisted breeding were developed for genes GS1A, GS2A and GS2D. The remaining genes encoding main wheat GS were excluded because of being monomorphic (GS1D) or too polymorphic (GS1B and GS2B) in the sequencing panel varieties. A collection of 187 Spanish bread wheat landraces was genotyped for these gene-based molecular markers. Data analyses conducted with phenotypic records reported for this germplasm collection in López-Fernández et al. (Plants-Basel 10: 620, 2021) have revealed the beneficial influence of some individual alleles on thousand-kernel weight (TKW), kernels per spike (KS) and grain protein content. Furthermore, genetic interactions between GS1A, a cytosolic GS isoform coding gene, and GS2A or GS2D, plastidic GS enzyme coding genes, were found to affect TKW and KS. The finding that some alleles at one locus may mask the effect of positive alleles at hypostatic GS loci should be kept in mind if gene pyramiding strategies are attempted for the improvement of N-use efficiency-related traits.Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature. This study was funded by the Spanish Ministry of Science and Innovation (Grants No. AGL2016-77149 and PID2019-109089RB-C32 from MCIN/AEI/10.13039/501100011033), by Comunidad de Madrid (Spain; Grant No. S2013/ABI-2717) and by Comunidad de Madrid (Spain) and Structural EU Funds 2014– 2020 (ERDF and ESF) (Grant No. AGRISOST-CM S2018/ AA-4330)Peer reviewe

Exploring the End-Use Quality Potential of a Collection of Spanish Bread Wheat Landraces

19 Pág.Modern plant-breeding practices have narrowed the genetic base of wheat, such that there is a need to introduce new germplasms with underexploited diversity into breeding programs. Wheat landraces are a very valuable resource when searching for genetic variation, which not only possess increased adaptability, but also quality-related traits. Several studies have shown a wide genetic diversity in Spanish wheat landraces compared to other germplasm collections; therefore, the main objective of this study is to analyze the variability in a collection of 189 landraces from the Spanish National Plant Genetic Resources Centre (Centro de Recursos Fitogenéticos, CRF-INIA, Alcalá de Henares), in relation to end-use quality traits. We characterized the whole collection for high-molecular-weight glutenin and puroindoline allelic composition, and for gluten strength. In addition, grain protein content, grains per spike, and thousand kernel weight were evaluated in samples from four-year field trials. The relationship between glutenin composition and quality was evaluated, and some alleles strongly associated with high quality were identified in the collection, some of them specific for Iberian landraces. The results also show the presence of novel variability within high-molecular-weight glutenin and puroindolines, which needs to be characterized further in order to assess its influence on wheat quality. In addition, a set of landraces showing outstanding values for gluten quality and a good agronomic performance was selected for testing in field trials in order to evaluate the suitability of their direct use in cropping systems.This research was funded by projects AGL2016-77149 and PID2019-109089RB-C32 from the Spanish Ministry of Science, Innovation, and Universities; project RFP2015-00008-C04-01 from the National Institute for Agricultural and Food Research and Technology; and grant No. AGRISOST-CM S2018/BAA-4330 from the Spanish Autonomous Community of Madrid and Structural EU Funds 2014-2020 (ERDF and ESF). M. López-Fernández is a recipient of a predoctoral fellowship from the Programa Propio of the Universidad Politécnica de Madrid.Peer reviewe