Laboratory of Immunogenetics and Histocompatibility, Department of Genetics, Federal University of Parana, 81530-990, Curitiba, Brazil.
Int J Immunogenet. 2009 Oct;36(5):269-74. doi: 10.1111/j.1744-313X.2009.00864.x. Epub 2009 Jul 29.
Microsatellites are short tandem repeats of 1-6 bp DNA fragments, which are found throughout the genome. Due to their high levels of polymorphism, many of them are used as markers for population studies. Here we report an investigation on four microsatellites (D6S273, D6S2792, STR_MICA and D6S2810) located within the major histocompatibility complex in a sample of 281 Southern Brazilians of European ancestry. Allelic and haplotypic frequencies are described, as well as linkage disequilibrium (LD) between alleles of these microsatellites and alleles of three HLA genes: HLA-B, HLA-DRB1 and HLA-DQB1. The most polymorphic microsatellite was D6S2810, located close to the HLA-B locus. Strong LD was observed between alleles of microsatellites and HLA genes. The strongest associations occurred among STR_MICAA5.1-HLA-B13, STR_MICAA6-HLA-B49, STR_MICAA9-HLA-B39, STR_MICAA9-HLAB57, D6S2810334-HLA-B14, D6S2810334-HLA-B38, STR_MICAA5.1-HLA-DRB11501-HLA-DQB10602 and D6S2810344-HLA-DRB10411-HLA-DQB10302. This study contributes with important information on HLA haplotypes, and is potentially useful in resolving cases of low resolution HLA genotyping ambiguities.
微卫星是 1-6bp 短串联重复 DNA 片段，广泛存在于基因组中。由于其高度多态性，许多微卫星被用作群体研究的标记。本研究报道了对 281 名欧洲裔巴西南方人的主要组织相容性复合体中 4 个微卫星（D6S273、D6S2792、STR_MICA 和 D6S2810）的调查。描述了等位基因和单倍型频率，以及这些微卫星的等位基因与 3 个 HLA 基因（HLA-B、HLA-DRB1 和 HLA-DQB1）的等位基因之间的连锁不平衡（LD）。最多态的微卫星是 D6S2810，位于 HLA-B 基因座附近。微卫星和 HLA 基因的等位基因之间观察到强烈的 LD。最强的关联发生在 STR_MICAA5.1-HLA-B13、STR_MICAA6-HLA-B49、STR_MICAA9-HLA-B39、STR_MICAA9-HLAB57、D6S2810334-HLA-B14、D6S2810334-HLA-B38、STR_MICAA5.1-HLA-DRB11501-HLA-DQB10602 和 D6S2810344-HLA-DRB10411-HLA-DQB10302 之间。本研究为 HLA 单倍型提供了重要信息，并且在解决 HLA 基因分型分辨率低的模糊问题时具有潜在的用途。
