Łukasik Ewa, Waśniowska Kazimiera
Laboratorium Immunochemii Glikokoniugatów, Instytut Immunologii i Terapii Doświadczalnej im. Ludwika Hirszfelda, Polskiej Akademii Nauk, Wrocław.
Laboratorium Immunochemii Glikokoniugatów, Instytut Immunologii i Terapii Doświadczalnej im. Ludwika Hirszfelda, Polskiej Akademii Nauk, Wrocław; Wydział Wychowania Fizycznego i Fizjoterapii, Politechnika Opolska, Opole.
Postepy Hig Med Dosw (Online). 2016 Mar 4;70:143-61. doi: 10.5604/17322693.1196360.
Duffy (Fy) blood group antigens are located on seven-transmembrane glycoprotein expressed on erythrocytes and endothelial cells, which acts as atypical chemokine receptor (ACKR1) and malarial receptor. The biological role of the Duffy glycoprotein has not been explained yet. It is suggested that Duffy protein modulate the intensity of the inflammatory response. The Duffy blood group system consists of two major antigens, Fy(a) and Fy(b), encoded by two codominant alleles designated FYA and FYB which differ by a single nucleotide polymorphism (SNP) at position 125G>A of the FY gene that results in Gly42Asp amino acid change in the Fy(a) and Fy(b) antigens, respectively. The presence of antigen Fy(a) and/or Fy(b) on the erythrocytes determine three Duffy-positive phenotypes: Fy(a+b-), Fy(a-b+) and Fy(a+b+), identified in Caucasian population. The Duffy-negative phenotype Fy(a-b-), frequent in Africans, but very rare in Caucasians, is defined by the homozygous state of FYB-33 alleles. The FYB-33 allele is associated with a SNP -33T>C in the promoter region of the FY gene, which suppresses erythroid expression of this gene without affecting its expression in other tissues. The FYX allele, found in Caucasians, is correlated with weak expression of Fy(b) antigen. Fy(x) antigen differs from the native Fy(b) by the Arg89Cys and Ala100Thr amino acid substitutions due to SNPs: 265C>T and 298G>A in FYB allele. The frequency of the FY alleles shows marked geographic disparities, the FYB-33 allele is predominant in Africans, the FYB in Caucasians, while the FY*A allele is dominant in Asians and it is the most prevalent allele globally.
达菲(Fy)血型抗原位于红细胞和内皮细胞上表达的七跨膜糖蛋白上,该糖蛋白作为非典型趋化因子受体(ACKR1)和疟疾受体。达菲糖蛋白的生物学作用尚未得到解释。有人认为达菲蛋白可调节炎症反应的强度。达菲血型系统由两种主要抗原Fy(a)和Fy(b)组成,由两个共显性等位基因FYA和FYB编码,这两个等位基因在FY基因第125位G>A处存在单核苷酸多态性(SNP),分别导致Fy(a)和Fy(b)抗原中第42位甘氨酸变为天冬氨酸的氨基酸变化。红细胞上抗原Fy(a)和/或Fy(b)的存在决定了三种达菲阳性表型:Fy(a+b-)、Fy(a-b+)和Fy(a+b+),在白种人群中可鉴定出来。达菲阴性表型Fy(a-b-)在非洲人中很常见,但在白种人中非常罕见,由FYB - 33等位基因的纯合状态定义。FYB - 33等位基因与FY基因启动子区域的SNP - 33T>C相关,该SNP抑制该基因在红细胞中的表达,而不影响其在其他组织中的表达。在白种人中发现的FYX等位基因与Fy(b)抗原的弱表达相关。由于FYB等位基因中的SNP:265C>T和298G>A,Fy(x)抗原与天然Fy(b)的区别在于第89位精氨酸变为半胱氨酸和第100位丙氨酸变为苏氨酸的氨基酸替换。FY等位基因的频率显示出明显的地理差异,FYB - 33等位基因在非洲人中占主导地位,FYB在白种人中占主导地位,而FY*A等位基因在亚洲人中占主导地位,并且是全球最普遍的等位基因。