Wyniki wyszukiwania

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Analysis of candidate genes for genotypic diagnosis in the long QT syndrome

100%

Haack B., Kupka S., Ebauer M., Siemiatkowska A., Pfister M., Kwiatkowska J., Erecinski J., Limon J., Ochman K., Blin N.

Journal of Applied Genetics

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2004

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tom 45

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nr 3

2

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Simulation study on the application of Gibbs sampling for major gene detection in a population of laying hens

84%

Szydlowski M., Szwaczkowski T.

Journal of Applied Genetics

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1998

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tom 39

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nr 4

A method for the detection of segregating major genes based on the analysis of estimated marginal posterior major gene variance density was examined. The properties of the method were investigated using data sets simulated for a real population of laying hens consisting of eleven generations. Marginal posterior densities of model parameters were estimated by the Gibbs sampling approach proposed by Janss et al. (1995). With the data of about 4000 observations it was possible to detect a major gene responsible for one third of the genetic variance and one tenth of the phenotypic variance, irrespectively of the degree of dominance at the major locus. The inference based on the posterior marginal major gene variance can be sensitive to skewness of the data. It was shown that skewness of 0.2 can lead to a false detection of a major gene. The method is robust against a non-genetic mixture of normal distributions.

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How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

84%

Kochanski A.

Journal of Applied Genetics

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2006

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tom 47

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nr 3

Knowledge whether a certain DNA variant is a pathogenic mutation or a harmless polymorphism is a critical issue in medical genetics, in which results of a molecular analysis may serve as a basis for diagnosis and genetic counseling. Due to its genetic heterogeneity expressed at the levels of loci, genes and mutations, Charcot-Marie-Tooth (CMT) disease can serve as a model group of clinically homogenous diseases for studying the pathogenicity of mutations. Close to a 17p11.2-p12 duplication occurring in 70% of patients with the demyelinating form of CMT disease, numerous mutations have been identified in poorly characterized genes coding for proteins of an unknown function. Functional analyses, segregation analyses of large pedigrees, and inclusion of large control groups are required to assess the potential pathogenicity of CMT mutations. Hence, the pathogenicity of numerous CMT mutations remains unclear. Some variants detected in the CMT genes and originally described as pathogenic mutations have been shown to have a polymorphic character. In contrast, polymorphisms initially considered harmless were later reclassified as pathogenic mutations. However, the process of assessing the pathogenicity of mutations, as presented in this study for CMT disorders, is a more general issue concerning all disorders with a genetic background. Since the number of DNA variants is still growing, in the near future geneticists will increasingly have to cope with the problem of pathogenicity of identified genetic variants.

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Gene insertion into strawberry leaf disk regeneration system using particle bombardment

67%

Sawahel W., Saker M.

Cellular and Molecular Biology Letters

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1997

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tom 02

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nr 3

Strawberry has previously been transformed using Agrobacterium-mediated DNA transfer. In this paper, we present a process for delivering foreign genes into strawberry leaf disks using particle bombardment. Expression of foreign DNA into strawberry leaf disks (Fragaria X ananassa Duch.) was detected - using in situ GUS assay-following bombardment with tungsten particles coated with plasmid DNA (pBI221.23) that coded for the selectable (hygromycin phosphotransferase [hpt] and the screenable (β-glucuronidase [GUS]) marker genes. Both genes are under the control of the Cauliflower Mosaic Virus (CaMV) 35S promoter. The criteria of stability of phenotypes after the removal of selective pressure, Southern blot hybridization and segregation analysis were used to confirm the mitotic stability of the foreign gene and its stable integration into the strawberry genome progeny. The relative simplicity of this system recommends its future use for the production of genetically modified strawberry.

Ograniczanie wyników

3 Journal of Applied Genetics

1 Cellular and Molecular Biology Letters

1 Blin N.

1 Ebauer M.

1 Erecinski J.

1 Haack B.

1 Kochanski A.

1 Kupka S.

1 Kwiatkowska J.

1 Limon J.

1 Ochman K.

1 Pfister M.

1 Saker M.

1 Sawahel W.

1 Siemiatkowska A.

1 Szwaczkowski T.

1 Szydlowski M.

1 2006

1 2004

1 1998

1 1997

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome

Simulation study on the application of Gibbs sampling for major gene detection in a population of laying hens

How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

Gene insertion into strawberry leaf disk regeneration system using particle bombardment