Microsatellite genotyping of Chromosome 14q13.2-14q13 in the vicinity of proteasomal gene PSMA6 and association with Graves? disease in the Latvian population
| Autor: | Nikolajs Sjakste, Arturs Sochnevs, Yrjö Collan, Jelena Eglite, Tatjana Sjakste, Valdis Pirags, Mara Marga |
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| Rok vydání: | 2004 |
| Předmět: |
Proteasome Endopeptidase Complex
Genotype Graves' disease Immunology Population Loss of Heterozygosity PSMA6 Biology Loss of heterozygosity Gene Frequency Multienzyme Complexes Genetics medicine Humans Allele education Genotyping Allele frequency Chromosomes Human Pair 14 education.field_of_study Polymorphism Genetic RNA-Binding Proteins medicine.disease Latvia Molecular biology Graves Disease Cysteine Endopeptidases Case-Control Studies Microsatellite Microsatellite Repeats |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1432-1211 0093-7711 |
| Popis: | The 270-kb chromosome 14q13.2-14q13 region harboring the proteasomal alpha subunit 6 gene PSMA6 was analyzed for polymorphism of five microsatellite repeats in cases/controls and association with Graves' disease. Four novel microsatellite markers were localized to the 14q13.2 region upstream of PSMA6. Dinucleotide repeats HSMS801, HSMS702, HSMS701 were identified in two introns of the gene KIAA0391; the most upstream trinucleotide HSMS602 marker was found in an intron of the C14orf24 gene. A polymorphism study performed on the Latvian population revealed 13 and 14 alleles for HSMS801 and HSMS702, respectively, seven alleles for HSMS701, and four alleles for HSMS602. Heterozygosity analysis revealed that all the four markers obey Hardy-Weinberg distribution. The previously described HSMS006 marker, represented by 12 alleles, is localized in intron 6 of the PSMA6 gene. No significant differences were observed between patients and controls in allele distribution of the HSMS702 and HSMS701 microsatellite repeats. However, the allele frequencies of HSMS006 and HSMS801 were significantly different between Graves' disease and control subjects. The 181- and 185-bp alleles of HSMS006 and the 133-, 143-, and 149-bp alleles of HSMS801 were found more often, but the 189- and 191-bp alleles of HSMS006 were much less frequent in Graves' disease patients compared with the controls. An additional 174-bp allele of the HSMS602 marker, absent in healthy subjects, was found in Graves' disease patients. |
| Databáze: | OpenAIRE |
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