Łukasik Ewa, Nowak Izabela, Czerwinski Marcin, Waśniowska Kazimiera
Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.
Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland; Faculty of Physical Education and Physiotherapy, Opole University of Technology, Prószkowska 76, 45-758 Opole, Poland.
Transfus Apher Sci. 2019 Apr;58(2):156-161. doi: 10.1016/j.transci.2018.12.020. Epub 2019 Jan 6.
Duffy blood group genes are highly polymorphic with the distribution of alleles varying between different populations and ethnic groups. The aim of this study was to genotype Duffy blood group antigens and to establish FY alleles frequency in the Polish population and screen for novel FY gene mutations. Duffy phenotype and genotype frequencies analysis was based on studies of 596 persons. All these subjects were genotyped by high-resolution melting (HRM) method. It was shown that phenotype Fy(a+b+), defined by genotypes FYA/FYB (33%), FYA/FYB298A (13%), and FYA/FY02W.01 (2.8%) was the most common in Polish population (˜49%), followed by Fy(a-b+), ˜29%, determined by genotypes arising from FYB allele and all its variants. Fy(a+b-) phenotype occurred with a frequency of 21.3% and was defined by the following genotypes: FYA/A (21%), and FYA/02N.01 (0.3%). Among the Polish population the frequencies of FYA, FYB, and FYB298A alleles were 45.7%, 36% and 15.5%, respectively. The alleles FYB298A and FYB combined together, represented higher frequency (51%) than FYA. Alleles FY02W.01 and FY*02N.01 had frequencies 2.51% and 0.25%, respectively. The distribution of Duffy genotypes in the Polish population was in accordance with Hardy-Weinberg equilibrium (p = 0.9682). Alleles in the genotypes are independent from each other (r = 0.0278, R = 0.00077). New mutations identified in the promoter region (c.-79T > C) and the coding region of the FY gene (c.147C > A and c.175 G > A) did not affect the Duffy antigen expression on erythrocyte. Although FY alleles frequency is known in different populations, no data for Polish population is available.
达菲血型基因具有高度多态性，其等位基因的分布在不同人群和种族之间存在差异。本研究的目的是对达菲血型抗原进行基因分型，确定波兰人群中FY等位基因的频率，并筛选新的FY基因突变。达菲血型表型和基因型频率分析基于对596人的研究。所有这些受试者均采用高分辨率熔解（HRM）方法进行基因分型。结果显示，由基因型FYA/FYB（33%）、FYA/FYB298A（13%）和FYA/FY02W.01（2.8%）定义的Fy(a+b+)表型在波兰人群中最为常见（约49%），其次是Fy(a-b+)，约29%，由FYB等位基因及其所有变体产生的基因型决定。Fy(a+b-)表型的出现频率为21.3%，由以下基因型定义：FYA/A（21%）和FYA/02N.01（0.3%）。在波兰人群中，FYA、FYB和FYB298A等位基因的频率分别为45.7%、36%和15.5%。FYB298A和FYB等位基因合在一起的频率（51%）高于FYA。FY02W.01和FY*02N.01等位基因的频率分别为2.51%和0.25%。波兰人群中达菲基因型的分布符合哈迪-温伯格平衡（p = 0.9682）。基因型中的等位基因相互独立（r = 0.0278，R = 0.00077）。在启动子区域（c.-79T＞C）和FY基因编码区域（c.147C＞A和c.
