Rios Maria, Hue-Roye Kim, Øyen Ragnhild, Miller Jeffrey, Reid Marion E
Immunochemistry Laboratory, New York Blood Center, New York, New York 10021, USA.
Transfusion. 2002 Jan;42(1):52-8. doi: 10.1046/j.1537-2995.2002.00004.x.
The Dombrock blood group system consists of two antithetical antigens (Do(a) and Do(b)) and three high-incidence antigens (Gregory [Gy(a)], Holley [Hy], and Joseph [Jo(a)]). Hy and Jo(a) have an unusual phenotypic relationship. All Hy- RBCs are Jo(a-), but not all Jo(a-) RBCs are Hy-. The molecular background associated with Hy- and Jo(a-) phenotypes is reported.
DNA from 18 probands with Gy(a+(w)) Hy- Jo(a-) RBCs (Hy- phenotype) and from 13 probands with Gy(a+) Hy+(w) Jo(a-) RBCs (Jo[a-] phenotype) was tested.
Sequencing and PCR-RFLP revealed 323 G>T (Gly 108Val) and 378 T>C (silent mutation) changes on a DOB background (HY) associated with the Hy- samples. The sister of the original Hy- proband and the majority of samples had an additional mutation of 898 C>G (Leu300Val) (HY1); others had 898C (300Leu) (HY2). In the Jo(a-) phenotype, there is a 350 C>T (Thr1 17Ile) and a 378 C>T (silent mutation) change on a DOA background (JO).
The results provide an explanation for the variation in typing results in antibody producers. The ablation of Jo(a) in the Hy- phenotype and the weakening of Hy in the Jo(a-) phenotype may be due to the close proximity of these antigens. The 898 C>G mutation, within the sequence motif for glycosylphosphatidylinositol linkage, may cause reduced efficiency of anchoring the protein to the RBC membrane, thereby weakening the expression of Gy(a) and Do(b).
唐布鲁克血型系统由两种对立抗原（Do(a) 和 Do(b)）以及三种高频率抗原（格雷戈里 [Gy(a)]、霍利 [Hy] 和约瑟夫 [Jo(a)]）组成。Hy 和 Jo(a) 具有不同寻常的表型关系。所有 Hy-红细胞均为 Jo(a-)，但并非所有 Jo(a-)红细胞都是 Hy-。本文报道了与 Hy-和 Jo(a-)表型相关的分子背景。
检测了 18 例具有 Gy(a+(w)) Hy- Jo(a-)红细胞（Hy-表型）的先证者以及 13 例具有 Gy(a+) Hy+(w) Jo(a-)红细胞（Jo[a-]表型）的先证者的 DNA。
测序和聚合酶链反应 - 限制性片段长度多态性分析显示，与 Hy-样本相关的 DOB 背景（HY）上存在 323 G>T（甘氨酸 108 缬氨酸）和 378 T>C（沉默突变）变化。最初的 Hy-先证者的姐妹以及大多数样本存在另外一个 898 C>G（亮氨酸 300 缬氨酸）突变（HY1）；其他样本有 898C（300 亮氨酸）（HY2）。在 Jo(a-)表型中，DOA 背景（JO）上存在 350 C>T（苏氨酸 117 异亮氨酸）和 378 C>T（沉默突变）变化。
研究结果为抗体产生者血型鉴定结果的差异提供了解释。Hy-表型中 Jo(a)的缺失以及 Jo(a-)表型中 Hy 的减弱可能是由于这些抗原位置临近。糖基磷脂酰肌醇连接序列基序内的 898 C>G 突变可能导致蛋白质锚定到红细胞膜的效率降低，从而减弱 Gy(a)和 Do(b)的表达。
