PSJD - Yadda

1

Frequencies of killer immunoglobulin-like receptor genotypes influence susceptibility to spontaneous abortion

100%

Nowak I., Malinowski A., Tchorzewski H., Barcz E., Wilczynski J. R., Grybos M., Kurpisz M., Luszczek W., Banasik M., Reszczynska-Slezak D., Majorczyk E., Wisniewski A., Senitzer D., Sun D. Y., Kusnierczyk P.

Journal of Applied Genetics

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2009

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vol. 50

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issue 4

391-398

EN

Natural killer (NK) cells are the most abundant lymphocyte population in the decidua. These cells express killer immunoglobulin-like receptors (KIRs), which upon recognition of HLA class I molecules on trophoblasts may either stimulate NK cells (activating KIRs) or inhibit them (inhibitory KIRs) to produce soluble factors necessary for the maintenance of pregnancy. KIR genes exhibit extensive haplotype polymorphism; individuals differ in both the number and kind (activating vs. inhibitory) of KIR genes. This polymorphism affects NK cell reactivity and susceptibility to diseases, including gynecological disorders. Therefore we KIR-genotyped 149 spontaneously aborting women and 117 control multiparae (at least 2 healthy-born children). Several genotypes (i.e. combinations of various KIR genes) were differently distributed among the patients and control subjects. Differences were observed in the numbers and the ratios of activating to inhibitory KIRs between patients and healthy women: (i) genotypes containing 6 activating KIR genes were less frequent and those containing 6 inhibitory KIR genes were more frequent in patients than in control subjects, and (ii) an excess of inhibitory KIRs (activating-to-inhibitory KIR gene ratios of 0.33 to 0.83) was associated with miscarriage, whereas ratios close to equilibrium (0.86?1.25) seemed to be protective. In addition, the results suggest for the first time that sporadic and recurrent spontaneous abortions as well as miscarriage in the presence or absence of autoantibodies may have different KIR genotypic backgrounds.

2

A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease

100%

Yassin N. A., Muwakkit S. A., Ibrahim A. O., Kayim I. M., Habbal M.-Z. M., Chamseddine N. M., Musallam K. M., Shamseddine A. I.

Journal of Applied Genetics

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2008

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vol. 49

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issue 4

421-424

EN

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of macrophages in the reticuloendothelial system. Three major clinical forms have been assigned and more than 200 gene mutations have been identified. We herein report a Lebanese boy born with a novel combined mutation L371V/Rec-NciI, who presented with moderate-severe type 1 GD. An overview of the clinical and biomarker improvement following enzyme replacement therapy with imiglucerase is described in a follow-up of 30 months. Imiglucerase seems to be efficacious in decreasing the severity of the disease associated with this mutation. However, a high dose may be required to achieve optimal growth, platelet count, and hemoglobin level.

3

Body weight of high and low aggression mice under various population densities

100%

Oikawa T., Kawamoto Y., Nakamura S., Morimasa T., Sato K.

Journal of Applied Genetics

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2000

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vol. 41

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issue 1

35-42

EN

The body weight of 21st generation mice selected divergently according to their aggression was compared in different population densities. The mice under isolated housing demonstrated higher levels of aggression in both lines. The growth of the mice was similar among the groups of different population densities in both lines. Only the males of the high aggression line showed a large phenotypic variance in the medium and high population densities, whereas no differences were observed among the population densities in males of the low aggression line or in the females of both lines. Our study suggested that the aggression of males was a source of extra variance in the high population density, resulting in heterogeneity of variance and genotype by sex interaction.

4

The influence of several factors on the efficiency of androgenesis in carrot

100%

Gorecka K., Krzyzanowska D., Gorecki R.

Journal of Applied Genetics

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2005

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vol. 46

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issue 3

265-269

EN

The influence of cultivar, donor plant and culture procedure on the efficiency of androgenesis was studied in carrot anther culture. Experiments were carried out on five carrot cultivars: CxC 9900 F1, Lucky B F1, HCM, Beta III and Perfekcja, which were chosen because of their high carotene contents. Two procedures of anther culture were compared: (1) incubation in darkness for two weeks, followed by exposure to continuous light and transfer onto a fresh medium of the same composition; and (2) incubation in darkness until embryos appeared, without transfer onto a fresh medium. Temperature was +27oC all the time. Genotype played an important role in the process of androgenesis in carrot anther culture.The efficiency was the highest in cv. HCM ? 5.6 embryos per 100 anthers. Considerable differences in the capacity for androgenesis were observed between individual donor plants. The ratio of embryos obtained per 100 anthers for cv. HCM varied from 0.0 to 48.9. The second procedure of anther culture proved to be more efficient, cheaper and less complicated.

5

Environmental stability and heritability estimates for grain yield and test weight in triticale

75%

Barnett R. D., Blount A. R., Pfahler P. L., Bruckner P. L., Wesenberg D. M., Johnson J. W.

Journal of Applied Genetics

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2006

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vol. 47

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issue 3

207-213

EN

Hexaploid triticale has many advantages over both parental species for both grain and forage production in certain environments. Additional information on environmental stability and heritability would be desirable to develop appropriate selection strategies in the production of superior widely-adapted cultivars. The grain yield of 22 diverse genotypes grown at four ecologically-distinct geographical locations [Quincy, FL, USA (approximate geographical coordinates (AGC) = 30oN 84oW, approximate elevation (AE) = 58 m), Plains, GA, USA (AGC = 32oN 84oW, AE = 76 m), Bozeman, MT USA (AGC = 45oN 111oW, AE = 1458 m), and Aberdeen, ID, USA (AGC = 42oN 112oW, AE = 1360 m)] was measured in two years with winter and spring planting dates only at Bozeman and Aberdeen. Test weight (grain weight in a given volume) was determined for two years at Bozeman and Aberdeen at both planting dates and one year at Quincy. Stability analyses indicated that significant (P < 0.01) variation in means, regression coefficients, and deviation mean squares of the genotypes were present for both characters. Realized heritability (h2) estimates were as follows: grain yield ranged from ?0.02 to 0.80 with a mean of 0.57; test weight ranged from 0.63 to 1.05 with a mean of 0.93. The results indicated that substantial genetic variation is present and selection for widely-adapted cultivars would be effective for both characters especially test weight.

6

Obtaining homozygous carrot plants with the aid of androgenesis in anther cultures

75%

Gorecka K., Krzyzanowska D., Kiszczak W., Kowalska U., Gorecki R.

Biotechnologia

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2008

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issue 2

142-152

EN

Experiments with anther cultures of 22 carrot cultivars were carried out to study the effect of various factors on the effectiveness of embryogenesis in these cultures. The factors included: the stage of microsporogenesis, genotype, training of donor plants and their growth conditions. A modified B5 medium (Gamborg, et al. 1968) containing 500 mg L-1 glutamine, 100 mg L-1 serine, 0.1 mg L-1 of 2,4D, 0.1 mg L-1 NAA, 100 g L-1 sucrose and 6.5 g L-1 agar were used to induce androgenesis. Regeneration was carried out on MS media and B5 with reduced concentration of sucrose at 20 g L-1 without aminoacids and hormones or with small amount of hormones. Substrates that were a mixture of various components, such as peat, sand, mineral wool and charcoal, were used for adaptation. Ploidy of the obtained plants was determined by cytometry method. Homozygosity of the plants was established using two isoenzymatic systems: PGI ? phosphoglucose isomerase, and AAT ? aspartate aminotransferase. Anatomical studies of embryogenesis during anther cultures were also carried out to confirm the androgenetic origin of embryos. It was found that the uninucleate stage was the most suitable time to stimulate microspores to produce embryos, and that bud length was a good external indicator of the stage of microsporogenesis. The studied cultivars differed in their ability to undergo androgenesis in vitro. It was shown that it was not necessary to remove all shoots and umbels except the main one. Generally, the embryos were obtained regardless of the way the donor plants were trained, even when the plants were not trained at all. The donor plants grown in a greenhouse produced more embryos than the plants grown in the field. On MS and B5 media without hormones, used to regenerate plants from embryos, secondary embryogenesis was found to take place followed by a conversion of embryos to complete plants, which subsequently resulted in better adaptation (more than 80% of plants became adapted). Cytometric studies revealed that more than 90% of the obtained androgenetic plants had a doubled chromosome complement. By analyzing the AAT and PGI isoenzymes, it was found that the obtained carrot androgenetic plants were homozygotes. Anatomical studies confirmed that embryos were formed from microspores.

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Frequencies of killer immunoglobulin-like receptor genotypes influence susceptibility to spontaneous abortion

A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease

Body weight of high and low aggression mice under various population densities

The influence of several factors on the efficiency of androgenesis in carrot

Environmental stability and heritability estimates for grain yield and test weight in triticale

Obtaining homozygous carrot plants with the aid of androgenesis in anther cultures