肯尼亚国家血型检测实验室自愿献血者达菲(FY)红细胞变异的分子特征

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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引用次数: 0

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,插入/缺失和结构变异。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献血者中达菲红细胞变异的频率。本研究采用次序法,描述性统计,结果以表格形式呈现。研究结果表明,达菲系统有三种变体;FY*Null GATA调控盒变异FY*02N.01/FY*02N的纯合子。01或Fy(a - b -)的预测值为93.52% (101/108),Fy *01/ Fy *02和Fy C . - 67t >C预测Fy(a+b -)或Fy(a - b+)的预测值为3.70%(4/108),而Fy *02/ Fy *02N的预测值为3.70%(4/108)。01预测Fy(a-b +)为2.78%(3/108)。本研究建议开展大样本量的扩展研究,并在FY抗原群体的鉴定中引入扩展表型。
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Molecular characterisation of Duffy (FY) 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 insertions/deletions and structural variants. In Africa, there is limited information on the red cell variants. The aim of the study was to establish the frequency Duffy red blood cell variants among the donors in Kenya. The study employed next sequencing method, descriptive statistics and results presented in form of a table. The findings show that Duffy system has three variants to include; homozygous for FY*Null GATA regulatory box variant FY*02N.01/FY*02N.01 or Fy(a–b–) found in 93.52% (101/108), while FY*01/FY*02 and FY c.–67T>C predicted Fy(a+b–) or Fy(a–b+) at 3.70% (4/108) while FY*02/FY*02N.01 predicted Fy(a–b+) at 2.78% (3/108). This study recommends an extended research involving large sample size and introduction of extended phenotyping in the identification of FY antigens population.
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