Thongbut Jairak, Raud Loann, Férec Claude, Promwong Charuporn, Nuchnoi Pornlada, Fichou Yann
Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand.
National Blood Centre, Thai Red Cross Society, Bangkok, Thailand.
Transfus Med Hemother. 2020 Feb;47(1):54-60. doi: 10.1159/000499087. Epub 2019 Apr 3.
Molecular genetics of the Rh system has been extensively studied in Caucasians, Black Africans, East Asians, and Indians more recently. In this work, we sought to investigate the molecular basis of variant D expression in the Thai population, which remains unknown.
Blood samples from 450 Thai donors showing the variant D phenotype were collected. The gene was analyzed by quantitative multiplex polymerase chain reaction of short fluorescent fragments and/or Sanger sequencing.
The most frequent alleles in 200 D-negative and 121 DEL samples were the whole gene deletion and the Asian alleles, respectively. In 129 weak/partial D samples, 36 variant alleles were identified, including eight novel alleles. *, which is common in variant D samples from South China, is the most prevalent variant allele, followed by the recently reported Indian * allele.
For the first time, a comprehensive overview of the nature and distribution of variant alleles in Thailand is reported. It is a milestone to pave the way towards improvement of the current screening strategy to identify DEL donors accurately. The next step will be the design and implementation of a simple molecular test for screening the most frequent alleles, specifically in this population.
近年来，Rh系统的分子遗传学在高加索人、非洲黑人、东亚人和印度人中得到了广泛研究。在这项研究中，我们试图探究泰国人群中变异型D表达的分子基础，而这一基础目前仍不清楚。
收集了450名表现出变异型D表型的泰国献血者的血样。通过短荧光片段定量多重聚合酶链反应和/或桑格测序对 基因进行分析。
在200例D阴性样本和121例DEL样本中，最常见的等位基因分别是整个 基因缺失和亚洲 等位基因。在129例弱/部分D样本中，鉴定出36个变异等位基因，包括8个新等位基因。，在中国南方的变异型D样本中常见，是最普遍的变异等位基因，其次是最近报道的印度等位基因。
首次报道了泰国变异型 等位基因的性质和分布的全面概况。这是朝着改进当前筛查策略以准确识别DEL献血者迈出的一个里程碑。下一步将是设计并实施一种简单的分子检测方法，用于筛查最常见的等位基因，特别是针对该人群。
