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1

Association of chosen microsatellite markers on chromosomes 10, 11p and 14q with IDDM susceptibility in the population of midwestern Poland

100%
Jungerman M., Fichna P.
Journal of Applied Genetics
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1996
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vol. 37
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issue 2
217-228
EN
In search for new markers of insulin-dependent diabetics (IDDM) susceptibility we studied the CATT tetranucleotide repeat in intron 1 of tyrosine hydroxylase (TH) gene on chromosome 11p, the CA repeat at T-cell receptor alpha chain (TCRA) locus on chromosome 14q region containing glutamic acid decarboxylase (GAD2) gene.Alleles at these microsatellite loci were indentified in a population of diabetic children and unrelated healthy controlos originationg from Wielkopolska, a midwestern region of Poland.We found significant association of certain alleles at TH, TCRA and D10S211 loci with diabetes in the population under study.On the contrary, none of the alleles at D10S213 locus was associated with the disease.Our findings indicate that typing of microsatellite markers may represent useful additional tool for identifying individuals at high risk of developing IDDM.Regarding loci on chromosome 10 our data and data publishing by other autors may suggest the existence of two separate regions of associatin with IDDM susceptibility on this chromosome.
2

Isolation and molecular characterization of the porcine SLC6A14 gene excludes it as a candidate gene for fat deposition and growth

88%
Yang G. L., Ren J., Zhang S. H., Huang W. B., Guo Y. M., Duan Y. Y., Liu M. Z., Huang L. S.
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vol. 51
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issue 3
299-308
EN
The gene encoding solute carrier family 6 member 14 (SLC6A14) has been considered as a candidate gene affecting human obesity. In this study, full-length cDNA (2237 bp) and DNA sequence (24 541 bp) of the porcine SLC6A14 gene were isolated. The porcine SLC6A14 cDNA contains a 5'-untranslated region of 57 bp, a 3'-untranslated region of 254 bp, and an open reading frame of 1926 bp, encoding a deduced protein of 642 amino acids with a molecular mass of 72. 475 kDa and an isoelectric point of 7.82. The genomic structure of the porcine SLC6A14 gene is similar to mammalian orthologs, particularly in terms of exon size and exon/intron boundaries. It comprises 14 exons and 13 introns. A semi-quantitative RT-PCR showed that the porcine SLC6A14 mRNA expression was tissue-specific. Four SLC6A14 single-nucleotide polymorphisms (SNPs) were identified, and 3 informative SNPs were chosen for genotyping in a White Duroc ? Erhualian resource population with phenotype data of growth and fatness traits. The association analysis showed that the c.1438 G>A nonsynonymous polymorphism was associated with birth weight and 21-day body weight (P < 0.05), while g.7944 A>T was associated with 46-day body weight. Linkage and radiation hybrid mapping assigned SLC6A14 to a region around SW1522 on SSCXp13, which did not fall in the confidence interval of the quantitative trait locus (QTL) for growth and fatness traits on SSCX in the resource population. These results indicate that SLC6A14 is not a positional candidate gene for the QTL affecting fatness and growth traits in pigs.
3

Role of ADRB2 gene polymorphism in asthma and response to beta2-agonists in Polish children

75%
Szczepankiewicz A., Breborowicz A., Sobkowiak P., Kramer L., Popiel A.
Journal of Applied Genetics
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2009
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vol. 50
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issue 3
275-281
EN
The aims of this study were: (1) to find associations of asthma with single-nucleotide polymorphisms (SNPs) within the ADRB2 gene: Arg16Gly, Gln27Glu,-1023 G/A, ?367 T/C,-47 C/T ; (2) to define linkage disequilibrium in the gene region, basing on the analyzed SNPs; and (3) to analyze the importance of ADRB2 polymorphism for response to bronchodilator drugs in children diagnosed with bronchial asthma. We compared 113 asthmatic children and 123 healthy subjects from the Polish population. Genotyping was performed by PCR-RFLP. We found an association of the A allele of ?1023A/G ADRB2 polymorphism with asthma (P = 0.024). No significant associations with other SNPs were detected. Moderate linkage was found between Gln27Glu and -47C/T polymorphisms in linkage disequilibrium analysis (D' = 0.85, r2 = 0.429, LOD = 31.97). No significant differences were found in haplotype frequencies in comparison to the control group, implicating that they are not associated with susceptibility to asthma in the analyzed population. There was no significant correlation between the analyzed SNPs of the ADRB2 gene and the response to beta2-agonists. This is the first report providing suggestive evidence for association of ?1023A/G ADRB2 polymorphism with an increased risk of asthma. The analyzed SNPs may not play a major role in response to beta2-agonists in asthmatic children.
4
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Protein kinase C: a nexus in the biochemical events that underlie associative learning

63%
Olds J. L., Alkon D. L.
Acta Neurobiologiae Experimentalis
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1993
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vol. 53
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issue 1
197-207
EN
We have proposed that protein kinase C, an enzyme critical to cell regulation of growth, secretion and differentiation, is a part of a sequence of molecular events that unsderlie learning and memory. Electrophysiological, biochemical and neuro-imaging methods have been employed to show that the enzyme changes its distribution as a result of memory storage within the neural networks that are necessary for the acquisition and performance of various learning tasks in several species. We propose here, a model of protein kinase C as a molecular signal for the association of synaptic input that is parsimonious with the recent data, mainly our laboratory, concerning its function in emory formation.
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