Clinical, Immunological And Molecular-Genetic Characteristic Of Aggressive Pituitary Adenomas

Pituitary adenomas (PA) are monoclonal tumors arising from the cells of the adenohypophysis and represent approximately 10-15% of all intracranial tumors and 90% of the tumors of the sellaturcica. Pituitary adenomas occur in almost 20% of the general population. The estimated annual morbidity of pituitary adenoma is approximately 20 cases per 100,000of population, making it the third most common primary intracranial tumor after gliomas and meningiomas [9].

Genetic characteristic of giant featherback, Chitala lopis (Bleeker, 1851) from Lampung and Kalimantan using COI Gene

DNA barcoding based on partial Cytochrome Oxidase subunit I (COI) gene in the mitochondrial has widely used in species identification and biodiversity studies. COI gene application is expected to obtain genetic characteristic, genetic variations and phylogeny of giant featherback. The aim of this research was to analyze genetic diversity of giant featherback Chitala lopis in Lampung and Kalimantan. To analyse genetic distance, Kimura two parameter (K2P) model was performed where to determine nucleotide variation & polymorphism and also reconstructed of phylogenetic tree was used MEGA 7.0 software. Total nine individuals were obtained from three populations, i.e. Lampung, West Kalimantan and South Kalimantan. The results showed that giant featherback has 689 bp conserve, 18 bp variation, 13 bp parsimony-informative, and 2 bp singleton sites from 707 bp COI partial gene. The average within-species, in-group, and out-group based on K2P distances were 1.24%, 1.43% & 1.58% (AP008922.1; KM213054.1), and 13.00% respectively. The Single Nucleotide Polymorphism (SNP) was obtaining from 13 SNP sites. West Kalimantan samples have two SNP (471 and 528 site). The South Kalimantan samples showed more specific nucleotides with nine SNP (120, 129, 144, 201, 306, 324, 474, 615 and 644). Based on genetic distance, the biggest difference was in the South Kalimantan sample (1.58%) compared with Lampung and West Kalimantan. The results of the K2P neighbour-joining phylogenetic tree reconstruction show that the South Kalimantan samples are in a different group. The West Kalimantan sample shows that it is closely related to the Lampung.

28 Evaluation invitro of two protocols of vitrification from alpaca (Vicugna pacos) embryos

The reproductive efficiency of South American camelids as the alpaca is low, with a few number of animals having a good genetic characteristic. The transfer of cryopreserved embryos has great potential to disseminate valuable genetic, but the suitable protocol for such cryopreservation still needs to be developed. In this study, two protocols of vitrification of alpaca embryos were tested. Day 6.5 post-mating, embryos (n=66) were recovered from 14 female alpacas through a non-surgical technique and classified according to the characteristics of old world camelids reported by Skidmore et al. 2004 (Reprod. Fertil. Dev. 16, 605–609). Only quality 1 and 2 embryos were used for the study. They were placed together in 50-µL drops of holding medium for 30min and transferred to a 100-µL drop of equilibration solution 1, consisting of 7.5% (v/v) ethylene glycol (EG) + 0.25M sucrose. After 1min, embryos were transferred to equilibration solution 2, consisting of 15% (v/v) EG + 0.5M sucrose. After 2min, embryos were transferred into 2 consecutive drops of vitrification solutions A [SA: 30% (v/v) EG + 1M sucrose] for 20s each, then in 2 other drops of vitrification solution B [SB: 30% (v/v) EG + 3% glycerol + 1M sucrose] for 20s each. Thereafter, embryos were quickly loaded into open pulled straws (OPS) in a volume of 10µL and then plunged into liquid nitrogen. For warming, the OPS were held in air for 5s and subsequently thawed at 37°C for 50s. Straws were emptied into 1mL of prewarmed holding medium solution (HMS1) containing 1M sucrose for wash and the thawed blastocysts were transferred into a second 1mL of prewarmed HMS1. After 5min incubation at 37°C, the blastocysts were transferred into 1mL of warmed Holding medium solution 2 (HMS2) containing 0.5M sucrose maintained at room temperature (∼24°C) for evaluation. Data were analysed by the Chi-squared test. Post-thaw embryo expansion results were 81.3% and 58.8% for SA and SB (P<0.05), respectively. Post-thaw embryo quality (1 and 2) were found at 62.5% and 29.1% with SA and SB, respectively (P<0.05). In conclusion, the vitrification of alpaca embryos with the ethylene glycol:sucrose solution results in better post-thaw outcomes than the ethylene glycol:sucrose:glycerol. Further experiments with embryo transfer are needed. This research was funded by FONDECYT project no. 149-2017.

Phenotypic Similarities and Differences of Genetic Characteristic Boer and PE Goat Yield Crossbreeding 1st and 2nd Generation

This research aimed to analyze the phenotypic similarity and genetic characteristics of 1st and 2nd generation (G1 and G2) goat of Boer and PE goat yield crossbreeding. The number of offsprings of G1 and G2 was46 and 28 goats, respectively. Data analysis of phenotypic characteristics was estimated by calculating the opportunities of the number of the appearance of G1 and G2 offspring. The result showed that the percentages of the G2 of W11 similarity (67.86%) more significant than G1 (26.09%). The W21was the G1 (45.65%) higher than G2 (10.71%), and W31 was G1 (28.26%) higher than G2 (21.43%). It concluded that G2 had phenotypic similarities of the characteristic (color) in total progeny. The G2 goat displays the phenotypic characters of inheritance (color)patterns that had more significant similarity than the results of the G1, as well as similarities in morphological characters that were different from the G1. The characteristics (colors) in the G2 had dark brown head color greater than G1, and body conformation approaches to Boer goat. Other colors like light brown, plain white, black, and straight black on G1 greater than G2.

Genetic characteristics of Holstein cattle by DNA microsatellites

Представлена генетическая характеристика 300 голов крупного рогатого скота голштинской породы, завезенных с Северного Зауралья в Хабаровский край, по 15 микросателлитным локусам ДНК. Установлено, что в исследуемой группе животных число аллелей на локус составляет 8,8, при этом эффективных аллелей – 4,5. Выявлено всего 132 аллеля, из них часто встречались четыре – 102 (локус CSRM 60), 117 (локус ETH 3), 117 (локус TGLA 126), 258 (локус SPS 115). Частота их встречаемости от 0,538 до 0,587. Наибольшим уровнем генетического разнообразия характеризовался локус TGLA 122, в нем установлено максимальное число аллелей – 20. Средний уровень наблюдаемой и ожидаемой гетерозиготности по всем изученным локусам составлял 0,700. Высокий уровень гетерозиготности свидетельствует о генетическом разнообразии соответствующих локусов генома животных. The results of genetic characteristic of 300 heads of Holstein cattle, brought from the Northern Trans-Urals at Khabarovsk region by 15 microsatellite loci of DNA are presented in this article. It was determined that in he group of animals being understudy the number of alleles on one locus was 8.8 while effective alleles – 4.5. In general 132 alleles were revealed, four of them met often: 102 (locus CSRM 60), 117 (locus ETH 3), 117 (locus TGLA 126), 258 (locus SPS 115) with frequency from 0.538 to 0.587. The greatest level of genetic variety was characterised by locus TGLA 122, it had a maximum number of alleles – 20. The middle level of the observed and expected heterozygosity for all the studied loci was 0.700. The high level of heterozygosity testifies to the genetic variety of corresponding animal genome loci.

Construction of three half-sib SSR linkage maps derived from overwintering cultivated rice and segregation distortion loci mapping

Segregation distortion is a common phenomenon that has been observed in genetics and plant breeding; however, the mechanism of segregation distortion is unknown. In the present study, three half-sib F2 populations derived from three japonica overwinter (perennial) rice varieties (W1, W2, and W3) crossed to the indica rice variety Minghui725 (MH725) were developed to construct three half-sib linkage maps. We established linkage map lengths of 2032.8, 2317.4, and 2108.7 cM with average intervals of 20.1, 20.5, and 19.7 cM using 101, 113, and 107 SSR markers in W1/MH725, W2/MH725, and W3/MH725, respectively. Discrepancies in marker order and genetic linkage distance occurred in the three half-sib linkage maps due to segregation distortion. A total of 88 markers exhibited segregation distortion across the three linkage maps at P < 0.01 level, 42 segregation distortion loci (SDLs) were detected across the three half-sib populations and exhibited variable LOD value that ranged from 3.2 (SDL2f) to 30.1 (SDL5d), and 13 of the 42 SDLs were repeatedly located at the same chromosomal regions of the previously published hybrid sterility quantitative trait loci. Data from this study provide an extensive archive for investigating the genetic characteristic of overwintering cultivated rice and the future exploration and innovation of overwintering rice breeding.

Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.

Background: LPS-responsive beige -like anchor protein (LRBA) deficiency is a primary immunodeficiency disease caused by loss of LRBA protein expression, due to biallelic mutations in LRBA gene. LRBA deficiency patients exhibit a clinically heterogeneous syndrome. The main clinical complication of LRBA deficiency is immune dysregulation. Furthermore, hypogammaglobulinemia is found in more than half of patients with LRBA-deficiency. To date, no patients with this condition have been reported in Colombia Objective: To evaluate the expression of the LRBA protein in patients from Colombia with clinical phenotype associated to LRBA-deficiency. Methods: In the present study the LRBA-expression in patients from Colombia with clinical phenotype associated to LRBA-deficiency was evaluated. After then, the clinical, the immunological characteristics and the possible genetic variants in LRBA or other genes associated with the immune system in patients that exhibit decrease protein expression was evaluated. Results: In total, 112 patients with different clinical manifestations associated to the clinical LRBA phenotype were evaluated. The LRBA expression varies greatly between different healthy donors and patients. Despite the great variability in the LRBA expression, six patients with a decrease in LRBA protein expression were observed. However, no pathogenic or possible pathogenic biallelic variants in LRBA, or in genes related with the immune system were found. Conclusion: LRBA expression varies greatly between different healthy donors and patients. Reduction LRBA-expression in 6 patients without homozygous mutations in LRBA or in associated genes with the immune system was observed. These results suggest the other genetic, epigenetic or environmental mechanisms, that might be regulated the LRBA-expression.