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- Title
A novel nonsense mutation found in the CD177 gene of Thai individuals with the HNA‐2 null phenotype.
- Authors
Siriphanthong, Kanokpol; Petvises, Sawang; Thanongsaksrikul, Jeeraphong; Intharanut, Kamphon; Nathalang, Oytip
- Abstract
Summary: Objectives: The aim of this study is to explore the molecular basis and to develop a simple sequence‐specific primer polymerase chain reaction (PCR‐SSP) technique for screening genotypes associated with the human neutrophil antigen‐2 (HNA‐2) null phenotype among Thai blood donors. Background: Single‐nucleotide polymorphisms (SNPs) c.787A>T of the CD177 gene is well known to be primarily demonstrated as a genetic determinant for HNA‐2 deficiency. Methods: The SNPs in the CD177 gene (exons 7 and 9) of 49 Thai blood donors with the known percentage of CD177 expression by flow cytometry including 48 HNA‐2 positive and 1 HNA‐2 null individuals were identified by long‐range PCR amplification and sequencing. Moreover, screening for the c.1254G>A mutation was developed using an in‐house PCR‐SSP technique and tested among 771 unrelated donor samples. Results: A HNA‐2 null sample from the first cohort was heterozygous for c.787A/T and homozygous for c.1291G/G, namely, a 787A‐1291G/787T‐1291G (AG/TG) genotype. Interestingly, we could identify SNP c.1254G>A (rs188387562, p. Trp418Ter) that caused a nonsense mutation of the CD177 gene in exon 9. This individual might have the 787A‐1254A‐1291G/787T‐1254G‐1291G genotype. From the second cohort (771 unrelated donors), the 1254GG homozygote was the most common (96.37%), followed by the 1254GA heterozygote (3.50%) and 1254AA homozygote (0.13%). Blood samples of two individuals with 787AT‐1254GA‐1291GG and 787AA‐1254AA‐1291GG genotypes were tested and the HNA‐2 antigen expressions were 0.03% and 0.16% in rank. Conclusions: The c.787A>T is a primary genetic hallmark to determine the HNA‐2 null phenotype. Additional screening of the novel c.1254G>A in combination with c.787A>T is a suitable, convenient and effective diagnosis among Thais.
- Subjects
NONSENSE mutation; SINGLE nucleotide polymorphisms; GENETIC mutation; PHENOTYPES; POLYMERASE chain reaction; BLOOD group antigens
- Publication
Transfusion Medicine, 2020, Vol 30, Issue 1, p30
- ISSN
0958-7578
- Publication type
Article
- DOI
10.1111/tme.12650