National Genetic Laboratory

Sofia, Bulgaria

National Genetic Laboratory

Sofia, Bulgaria
SEARCH FILTERS
Time filter
Source Type

Damyanova V.,Medical University-Sofia | Dimova I.,Medical University-Sofia | Savov A.,National Genetic Laboratory | Nesheva D.,Medical University-Sofia | And 6 more authors.
Biotechnology and Biotechnological Equipment | Year: 2013

Infertility affects 10 % to 15 % of all couples. In about 40 % of the cases the male factor is reported to be the main reason for unsuccessful fertilization. Although in 70 % of the male factor infertility cases the etiology is recognizable, in the remaining 30 % the reason is unknown and the male infertility is named idiopathic. In the current study, we selected 10 patients with idiopathic infertility, affected by azoospermia and oligoasthenoteratozoospermia. All patients were subjected to DNA analysis for deletions of the Y chromosome and cytogenetic analysis for chromosomal aberrations. After these analyses, the patients without such kind of abnormalities were further analyzed by microarray-based comparative genomic hybridization (array CGH). The cytogenetic analysis revealed two patients with chromosomal mutations - inv (9)(p11;q13) and t(Y;9)(q12.3;q21.1). Two other patients were detected to have deletions of the AZFc region of the Y chromosome. Thus, we applied array CGH analysis for the six patients without chromosomal or Y-chromosome aberrations. Apart from the presence of known polymorphisms, we established copy number alteration in 17q12-17q21.2 - a region containing the gene for zona pellucida binding protein ZPBP2. This protein plays a crucial role for the proper spermatogenesis. Our results prompted for investigation of this gene and protein as a potential candidate for spermatogenic failure.


Stancheva M.,Sofia University | Kremenski I.,National Genetic Laboratory | Apostolova M.,Bulgarian Academy of Science | Jaeken J.,Catholic University of Leuven | And 9 more authors.
Acta Medica Bulgarica | Year: 2010

The authors report a 6-year-old boy with PMM2-CDG who presented with mild mental retardation, microcephaly, facial dysmorphysm, concomitant convergent strabismus, pseudobulbar, cerebellar and epileptic syndrome, inverted nipples, inguinal hernia, cryptorchidism, pectus carinatum. The MRI in the early childhood period showed Dandy-Walker malformation. The diagnosis was revealed with IEF of serum transferrin and confirmed with capillary zone electrophoresis. In cultured skin fibroblasts, the patient exhibited deficient phosphomannomutase (0.9 mU/mg protein). The sequence analysis showed compound heterozygosity for the common R141H/V231M mutations.


Lobo J.M.,CSIC - National Museum of Natural Sciences | Jimenez-Ruiz Y.,CSIC - National Museum of Natural Sciences | Chehlarov E.,Institute of Biodiversity and Ecosystem Research | Gueorguiev B.,Natural Museum of Natural History | And 4 more authors.
Zootaxa | Year: 2015

The phylogenetic placement of Jekelius brullei (Jekel, 1866) and J. punctulatus (Jekel, 1866) (Coleoptera: Geotrupidae) was assessed using mitochondrial and nuclear molecular data to discern contrasting nomenclatural views provided by López-Colón (1996) and the Catalogue of Palaearctic Coleoptera (Löbl et al. 2006). Our results support both the monophyletic and classification status of the genus Jekelius López-Colón, 1989; and the splitting of the genus into the subgenera Jekelius López-Colón, 1989 and Reitterius López-Colón, 1996. The basal phylogenetic placement of these two species also suggests an oriental origin for Jekelius within the western Palaearctic region. Finally, we include a potential distributional map of Jekelius (Reitterius) punctulatus (Jekel, 1866) based on an exhaustive search of occurrence data. © 2015 Magnolia Press.


PubMed | University of Alicante, National Genetic Laboratory, Institute of Biodiversity and Ecosystem Research, CSIC - National Museum of Natural Sciences and 2 more.
Type: Journal Article | Journal: Zootaxa | Year: 2015

The phylogenetic placement of Jekelius brullei (Jekel, 1866) and J. punctulatus (Jekel, 1866) (Coleoptera: Geotrupidae) was assessed using mitochondrial and nuclear molecular data to discern contrasting nomenclatural views provided by Lpez-Coln (1996) and the Catalogue of Palaearctic Coleoptera (Lbl et al. 2006). Our results support both the monophyletic and classification status of the genus Jekelius Lpez-Coln, 1989; and the splitting of the genus into the subgenera Jekelius Lpez-Coln, 1989 and Reitterius Lpez-Coln, 1996. The basal phylogenetic placement of these two species also suggests an oriental origin for Jekelius within the western Palaearctic region. Finally, we include a potential distributional map of Jekelius (Reitterius) punctulatus (Jekel, 1866) based on an exhaustive search of occurrence data.

Loading National Genetic Laboratory collaborators
Loading National Genetic Laboratory collaborators