A Novel RHD Allele Similar to RHD*DIV.4 with Additional c.1025T>C.

• Tác giả: Jian Chen, Jing Feng, Guojin Ou, Hong Zhao
• Ngôn ngữ: eng
• Ký hiệu phân loại: 296.31155 Theology, ethics, views of social issues
• Thông tin xuất bản: Germany : Clinical laboratory , 2025
• Bộ sưu tập: NCBI
• ID: 209062

Tóm tắt

BACKGROUND: Polymorphic RH is one of the most important blood group systems used for transfusion. Use of molecular technologies combined with serological testing help to identify the new RHD variants. METHODS: The traditional serological test of blood type was performed for a 28-year-old pregnant female. The result showed a weaker positive reaction result on two different microcolumn gel cards. A molecular genotyping assay was performed to get more information. RESULTS: The gene sequence study indicated 7 nucleotide changes in exon 7, compared with the reference allele. The third-generation sequencing using the long-read PacBio HiFi system showed these variants were all located in the same haplotype. The variant is replaced by the counterpart from RHCE gene in exon 7 with at least 37 bp. Most of its position was located in the sixth extracellular loop. CONCLUSIONS: A novel RHD allele was identified with 7 missense mutations that is similar to RHD*DIV.4 and likely causes a partial D phenotype.