Homozygosity for a novel A4GALT allele resulting in the rare p phenotype in an Indian blood donor.

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Tác giả: Suvro Sankha Datta, Vanja Karamatic Crew, Amy Tearle, Nicole M Thornton, Louise A Tilley

Ngôn ngữ: eng

Ký hiệu phân loại: 627.12 Rivers and streams

Thông tin xuất bản: England : Vox sanguinis , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 181813

 BACKGROUND AND OBJECTIVES: Individuals with the rare p phenotype have red cells lacking P, P1 and P MATERIALS AND METHODS: Samples from a 32-year-old Indian blood donor were investigated due to the presence of a pan-reactive alloantibody, together with samples from his sister and mother. Standard serological investigations and A4GALT sequencing were performed. RESULTS: The donor was found to have p phenotype, and his plasma contained anti-PP1P CONCLUSION: We have identified homozygosity for a novel A4GALT null allele (carrying c.526G>
 A, p.Asp176Asn), resulting in lack of functional 4-α-galactosyltransferase and a p phenotype, adding to the catalogue of known genetic backgrounds of this rare phenotype.
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