0000000000281144
AUTHOR
Arita Blumberga
Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing
Purpose To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. Methods Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in t…
Latvijas saimniecībās izaudzēto sēņu Letinula edodes celmu identifikācija.
Bakalaura darbā "Latvijas saimniecībās izaudzēto sēņu Letinula edodes celmu identifikācija" tika izmantotas metodes, kuras bieži izmanto šitakē sēņu identificēšanā - veģetatīvās nesaderības tests un RAPD. Tika mēģināts noskaidrot Latvijā, zemnieku saimniecībā savākto augļķermeņu radniecību ar sēņu muzejā glabātajiem celmiem. Šāda izpēte ir nozīmīga, lai atlasītu celmus, kuri ir piemēroti augšanai noteiktos klimatiskos apstākļos, tādejādi paaugstinot saimniecībās ražas kvalitāti. Rezultātā izdevās identificēt celmus DSM3343, DSM3565, F1, kas ļauj secināt, ka šīs metodes ir piemērotas sēņu celmu identificēšanai. Šos celmus arī rekomendējam audzēšanai Latvijā.
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
Abstract Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders – hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100 ) occurs in 1 out of 5000–10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia – XLHED) [2] . The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]…