Strezova Ana, Arsov Todor, Petlichkovski Aleksandar, Trajkov Dejan, Efinska-Mladenovska Olivija, Spiroski Mirko
Immunobiology and Human Genetics Institute, Faculty of Medicine, Ss. Cyril and Methodius University, Skopje, R. Macedonia.
Prilozi. 2008 Jul;29(1):77-91.
The aim of this study was to investigate the occurrence of ambiguous allele combinations at the allele group level of HLA-A, -C and -B loci in the Macedonian population. The DNA samples of 214 healthy unrelated Macedonian volunteers were obtained from our DNA Bank. HLA typing was performed using the IHWG-RLS method (Reverse Line Strip, Roche Molecular Systems, USA) consisting of PCR amplification of exon 2 and 3 of HLA-A, -B and -C genes, followed by hybridization. The statistical analysis of the observed ambiguity frequency was performed by using the Arleqin Software. At the HLA-A locus only one ambiguous allele combination at the allele group level in 214 samples was observed with a frequency of 0.467% (1/214 = 0.467%). A total of 6 different HLA-C ambiguous allele combinations at the allele group level in twelve samples with a frequency of 5.607% (12/214 = 5.607%) and 11 different for HLA-B locus in nineteen samples with a frequency of 8.879% (19/214 = 8.879%) were observed in 214 samples. In conclusion we can say that analysis of the frequency of allele ambiguities revealed that the ambiguities involved some of the most common alleles in our population, obviating the need to introduce ambiguity resolution technique(s)/strategies in the HLA laboratory.
本研究的目的是调查马其顿人群中HLA - A、- C和 - B位点等位基因组水平上模糊等位基因组合的出现情况。214名健康的、无亲缘关系的马其顿志愿者的DNA样本取自我们的DNA库。采用IHWG - RLS方法（反向线印迹法，罗氏分子系统公司，美国）进行HLA分型，该方法包括对HLA - A、- B和 - C基因的外显子2和3进行PCR扩增，随后进行杂交。使用Arleqin软件对观察到的模糊频率进行统计分析。在HLA - A位点，在214个样本中仅观察到1个等位基因组水平的模糊等位基因组合，频率为0.467%（1/214 = 0.467%）。在214个样本中，共观察到12个样本中有6种不同的HLA - C等位基因组水平的模糊等位基因组合，频率为5.607%（12/214 = 5.607%），以及19个样本中有11种不同的HLA - B位点的模糊等位基因组合，频率为8.879%（19/214 = 8.879%）。总之，我们可以说，对等位基因模糊频率的分析表明，这些模糊涉及到我们人群中一些最常见的等位基因，从而无需在HLA实验室引入模糊分辨率技术/策略。
