肯尼亚国家血型测试实验室自愿献血者的凯尔(KEL)红细胞变异的分子组织

N. Rachel, K. M. Kennedy, A. Suleiman, K. Christine, Chege Evelynn, Obiero Celestino, H. L. Genghis, V. R. Eileen, A. Catherine, L. F. Robert
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摘要

变体是位于基因特定区域的替代核苷酸。48个基因编码人类红细胞血型系统。这些基因中的变异编码等位基因,这些等位基因可以是高度多态性的。血型基因位点共同显示所有类型的遗传变异,包括单核苷酸变异(snv)、插入/缺失(indels)和结构变异。在非洲,关于红细胞变异的信息有限。这项研究的目的是确定肯尼亚人中凯尔红细胞变异的发生率。本研究确定了用于常规分组过程的献血者样本。采用新一代测序方法预测供血样本中的Kell红细胞变异。采用描述性统计,结果以表格形式呈现。研究表明,Kell系统有6个变异,主要有两种表型和基因型。最常见的表型基因型为KEL2 (KEL*02/KEL*02) 79%(85/108),其次为KEL2、KEL6、KEL7 (KEL*02.06/KEL*02) 16.7%(18/108)。其余的都是低频率的,并且都与KEL2有关。该研究建议进行大样本量的扩展研究,并引入扩展表型,以帮助在供体人群中识别Kell抗原。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular organisation of Kell (KEL) red blood cell variants among voluntary blood donors at the National Blood Grouping Testing Laboratory, Kenya
A variant is an alternative nucleotide located at a specific region of a gene. 48 genes encode for human red cell blood group systems. Variants within these genes encode for alleles, which can be highly polymorphic. The blood group gene loci jointly display all types of inherited variants to include single nucleotide variants (SNVs), insertions/deletions (indels), and structural variants. In Africa, there is limited information on the red cell variants. The aim of the study was to determine the incidence of Kell red blood cell variants among the Kenyans. Blood donor’s samples that were used for routine grouping process were identified for this study. Next generation sequencing method was employed to predict the Kell red cell variants in blood donor samples. Descriptive statistics was applied and the result was presented in form of tables. The study reveals that Kell system has six variants with two major phenotypes and genotpes. The most common phenotype genotyped was KEL2 (KEL*02/KEL*02) 79% (85/108) followed by KEL2 KEL6 KEL7 (KEL*02.06/KEL*02) 16.7% (18/108). The rest were found to be of low frequency and all were associated with KEL2. The study recommends an extended study with a large sample size and introduction of extended phenotyping to aid Kell antigens identification in the donor population.
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