Yang K L, Lin P Y
Laboratory of Immunogenetics, Tzu-Chi Stem Cells Centre, Buddhist Tzu-Chi Marrow Donor Registry, Buddhist Tzu-Chi Hospital, Buddhist Compassion Relief Tzu-Chi Foundation, Hualien, Taiwan.
Int J Immunogenet. 2007 Oct;34(5):385-92. doi: 10.1111/j.1744-313X.2007.00704.x.
From 120 unrelated Taiwanese marrow stem cell donors with allelic homozygosities at human leucocyte antigen (HLA)-A, -B and -DRB1 loci, we determined 85 distinguishable haplotypes. Using the predetermined haplotype data, we deduced 418 haplotypes from 1903 unrelated individual stem cell donors selected for HLA confirmatory test. Eighteen of the 20 (90%) most frequently observed haplotypes determined in Asian Americans using computer prediction were found in this study. In comparison with haplotypes determined by maximum likelihood algorithm in Korean population, 18 of the 29 (62.07%) Korean haplotypes with a frequency over 0.5% were also among the haplotypes determined in this investigation. Randomized family studies confirmed that over 50% of the haplotypes observed in the families were among the haplotypes deduced based on allelic homozygosity, suggesting that proportionally additional haplotypes can be determined as the number of donors being studied is increased. Haplotypes carrying low incidence allele characteristics of Taiwanese were also observed in this study. This established haplotype information will be beneficial for patients searching for stem cell donors in our registry domestically and internationally.
在120名人类白细胞抗原(HLA)-A、-B和-DRB1位点等位基因纯合的非亲属台湾骨髓干细胞供者中,我们确定了85种可区分的单倍型。利用预先确定的单倍型数据,我们从1903名被选进行HLA确证检测的非亲属个体干细胞供者中推断出418种单倍型。本研究发现,在利用计算机预测确定的亚裔美国人中最常观察到的20种单倍型里,有18种出现。与韩国人群中通过最大似然算法确定的单倍型相比,在本研究确定的单倍型中也有29种韩国单倍型(频率超过0.5%)中的18种。随机家系研究证实,在家系中观察到的单倍型中,超过50%属于基于等位基因纯合性推断出的单倍型,这表明随着所研究供者数量的增加,可以按比例确定更多的单倍型。本研究还观察到携带台湾人低发生率等位基因特征的单倍型。这一已确定的单倍型信息将有利于在国内外我们的登记处寻找干细胞供者的患者。