Genetic analysis of selected tomato [Lycopersicon esculentum Mill.] traits in crosses between cultivated lines and the nor mutant

The aim of the study was to investigate the delayed ripening caused by the nor gene and its possible interaction with selected traits observed in two combinations, namely, Dw₄ x nor and C36 x nor. The lines Dw₄ and C36 differed from each other in the majority of examined characters. There was no significant effect of reciprocal crosses on these characters (total yield, number of fruits, fruit weight, locule number, earliness and fruit shelf life). In Dw₄ x nor fruit weight was inherited with incomplete dominance of small fruit, while in C36 x nor the inheritance proved to be intermediate. This important statement made it possible to distinguish the hybrids characterised by fruit weight intermediate in relation to the parental forms. The experiments attested to the high significance of additive effects for fruit weight, periods from sowing to ripening and from flowering to ripening in both combinations and for locule number in Dw₄ x nor. It was also found that the nor gene slightly delayed the onset of fruit ripening but did not affect such traits as total yield, number and weight of fruits, locule number and period from sowing to flowering. In its homozygous state the nor gene totally inhibited fruit ripening. However, as a heterozygote it revealed an intermediate action, slowing down fruit ripening and prolonging shelf life 2-3 times as compared with standard tomato. The expression of the nor gene was also found to be dependent on the genetic background. Line C36 positively influenced the flavour and firmness of hybrid fruits, while Dw₄ had a negative effect on fruit quality

The carotenoid content in the fruits of winter squash (Cucurbita maxima L.)

Celem pracy była analiza zawartości karotenoidów ogółem oraz beta karotenu w owocach dziewięciu form dyni olbrzymiej, w tym czterech linii: L486, L487, L488, L491 i mieszańca F₁420 hodowli KGHiBR oraz czterech odmian wzorcowych: Amazonka, Bambino, Melonowa Żółta, Uchiki Kurii. Doświadczenia przeprowadzono w latach 2000-2002 na polu doświadczalnym SGGW, Wolica. Owoce zbierano w końcu września i składowano w przechowalni. W połowie listopada pobierano próby do analiz i zamrażano w temperaturze -20°C. Do rozdzielenia beta karotenu stosowano metodę chromatografii kolumnowej. Zawartość beta karotenu i karotenoidów ogółem oznaczano spektrofotometrycznie przy długości fali 450 nm. Wykonano analizę wariancji i utworzono grupy jednorodne przy pomocy testu Duncana. Obserwowano duże zróżnicowanie zawartości karotenoidów (3,0-133,1 mg·kg⁻¹ św.m.) i beta karotenu (1,9-76,3 mg·kg⁻¹ św.m.). Najwyższą zawartością karotenoidów ogółem (88,3 mg·kg⁻¹ św.m.) i beta karotenu (51,6 mg·kg⁻¹ św.m.) charakteryzowała się odmiana Amazonka, a najniższą linia L491 (średnia z 3 lat - odpowiednio 3,7 mg·kg⁻¹ św.m. i 3,1 mg·kg⁻¹ św.m.). Zawartość związków karotenoidowych w owocach badanych form istotnie różniła się w latach badań. Średnie ze wszystkich form w latach 2000 i 2002 osiągnęły podobne wartości (47,4 mg·kg⁻¹ św.m. i 49,6 mg·kg⁻¹ św.m. dla sumy związków karotenoidowych oraz 32,7 mg·kg⁻¹ św.m. i 33,3 mg·kg⁻¹ św.m. dla beta karotenu), natomiast znacznie niższe wartości były w 2001 roku (związków karotenoidowych 23,96 mg·kg⁻¹ św.m. i beta karotenu 14,6 mg·kg⁻¹ św.m.). Zawartość związków karotenoidowych oraz beta karotenu w owocu była silnie uzależniona od warunków atmosferycznych.The aim of the study was the evaluation of the total carotenoid and beta carotene content in the fruits of nine forms of winter squash. Four inbred lines: L486, L487, L488, L491, F₁ hybrid 420 bred in KGHiBR, and four varieties: Amazonka, Bambino, Melonowa Żółta, and Uchiki Kurii were examined. The experiments were carried out in three successive years: 2000-2002 at the experimental field of SGGW, Wolica. Fruits were harvested at the end of September and stored. In the middle of November the samples were taken for analysis and stored in a freezer (-20°C). The column chromatography was used for beta carotene separation. Beta carotene and total carotenoids content was determined by spectrophotometer for the wave length 450 nm. The analysis of variance was carried out and homogeneous groups were set up using Duncan test. The wide range of examined traits was observed (3.0-133.1 mg·kg⁻¹ FM for total carotenoids and 1.9-76.3 mg·kg⁻¹ FM for beta carotene). Amazonka had the highest total carotenoid and beta carotene content (the mean for three years - 88.3 and 51.6 mg·kg⁻¹ FM, respectively) and L491 line - the lowest (3.7 and 3.1 mg·kg⁻¹ FM). The diversity of the carotenoids content in consecutive years was observed. The means for all forms reached similar values in 2000 and 2002 (4.74 and 4.96 mg·kg⁻¹ FM for total carotenoids, 3.27 and 3.33 mg·kg⁻¹ FM for beta carotene, respectively), with much lower values in 2001 (2.39 and 1.46 mg·kg⁻¹ FM, respectively). Amazonka and Uchiki Kurii reached the highest level of both characters in 2002, while L486 and L488 lines in 2000, which indicates that the carotenoid content was much modified by weather conditions

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Contains fulltext : 203022.pdf (publisher's version ) (Closed access)Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients