engleski

Linkage disequlibrium analysis of Xq13 in Croatian Roma population

Roma are an example of genetically isolated population, which preserved its uniqueness until present day due to their socio-cultural characteristics. Genetically isolated populations have been recognized as an appropriate model for investigations of various genetic diseases. The Roma population was, so far, investigated for numerous monogenetic disorders but not for complex diseases in spite of their high prevalence among Roma. Association studies aimed at finding disease mutations are dependent on the extent of linkage disequilibrium (LD) levels in a given population. The main goal of this investigation is to determinate the level of LD and isolation and inbreeding among three socio-culturally different Roma populations in Croatia. We genotyped 7 X-chromosome microsatellite markers located in the region previously studied for LD estimation in genetic isolates. PCR fragments were analysed on ABI Prism 310 DNA analyzer. Genescan v3.1 software was used for processing the results, and tandem software was used for rounding allele sizes to valid integers. Various software were used to measure pairwise and multiallelic LD values. Results indicate elevated levels of LD in investigated Roma populations, and the comparison with other isolated populations showed similarity of Međimurje sample with highly isolated and small but stable populations, while Baranja and Zagreb sample exhibited characteristics similar to populations more open to gene flow and therefore less isolated than Međimurje sample. Levels of LD in Croatian Roma populations suggest a possibility for their use in the identification of genes underlying complex diseases by means of LD association studies.

Roma; LD; chromosome X

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