Haplotipske veze dva najčešća podtipa gena HLA-B*27 u hrvatskoj populaciji

Autor: Zorana, Grubić, Renata, Zunec, Katarina, Stingl, Danijela, Svilicić, Vesna, Kerhin-Brkljacić
Jazyk: chorvatština
Rok vydání: 2008
Předmět:
Zdroj: Reumatizam
Volume 55
Issue 1
ISSN: 2459-6159
0374-1338
Popis: Cilj ovog rada bio je analizirati produžene haplotipove dva najčešća podtipa gena HLA-B*27 (B*2702 i *2705) u hrvatskoj populaciji. Analizirana je skupina od 111 nesrodnih ispitanika pozitivnih za gen HLA-B*27, koji do početka ovog istraživanja nisu imali nikakve simptome ankilozantnog spondilitisa. Ukupan broj praćenih haplotipskih veza bio je 112 jer je jedna osoba bila homozigot za gen HLA-B*27. Podtip gena HLA-B*27 i geni na lokusu HLA-A i -DRB1 određeni su metodom PCR-SSP kod svih ispitanika. Od 7 različitih podtipova gena HLA-B*27 uočenih među našim ispitanicima, najčešći je bio alel B*2705 (61,6%) te alel B*2702 (30,4%), dok su preostali aleli (B*2701, B*2703, B*2704, B*2708 i B*2714) uočeni jedanput, odnosno, dvaput. Najčešći gen na lokusu HLA-A bio je HLA-A*02, kako unutar haplotipskih veza alela B*2702 tako i unutar veza alela B*2705. Nije uočena razlika u zastupljenosti gena na ovom lokusu između haplotipskih veza alela B*2702 i alela B*2705. Analiza haplotipskih veza HLA-B, -DRB1 ukazala je na jaku povezanost alela B*2702 i DRB1*16 koji su se zajedno pojavili s učestalošću od 44,1%, što je statistički značajno u usporedbi s učestalošću s kojom se DRB1*16 pojavio unutar haplotipskih veza alela B*2705 (4,0%; P
The aim of the present study was to analyze haplotypic associations of two the most common HLA-B*27 subtypes (B*2702 and *2705) in the Croatian population. One hundred and eleven unrelated HLA-B*27 positive individuals were included. None of them had any sign of ankylosing spondylitis. The total number of analyzed haplotypic associations was 112 because one individual was homozygous for HLA-B*27. HLA-B*27 alleles as well as HLA-A and DRB1 specificities were tested by PCR-SSP method. Among seven different HLA-B*27 alleles observed among our individuals, B*2705 was the most frequent (61.6%), followed by B*2702 (30.4%), while the frequency of all other observed alleles (B*2701, B*2703, B*2704, B*2708 i B*2714) was less than 2.0%. HLA-A*02 was the most frequent specificity at HLA-A locus in both groups of haplotypic associations (B*2702 and B*2705) and no difference in distribution of HLA-A genes was observed between two groups. Analysis of HLA-B*2702 haplotypic associations showed the high frequency of DRB1*16 (44.2%) in comparison to B*2705 haplotypic associations (4.0%) with significant P value (P
Databáze: OpenAIRE
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