Serological and molecular biological analysis of a rare Dc- variant individual

Xue TIAN; Hua XU; Sha YANG; Suili LUO; Qinqin ZUO; Liangzi ZHANG; Xiaoyue CHU; Jin WANG; Dazhou WU; Na FENG

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Serological and molecular biological analysis of a rare Dc- variant individual

VernacularTitle:罕见Dc-个体的血清学与分子生物学分析
Author: Xue TIAN ¹ ; Hua XU ¹ ; Sha YANG ² ; Suili LUO ³ ; Qinqin ZUO ¹ ; Liangzi ZHANG ¹ ; Xiaoyue CHU ¹ ; Jin WANG ¹ ; Dazhou WU ¹ ; Na FENG ¹
Author Information

1. Shaanxi Blood Center, Xi'an 710061, China
2. Yangling Demonstration Zone Hospital, Xianyang 712100, China
3. Xianyang Central Blood Station, Xianyang 712046, China
Publication Type:Journal Article
Keywords: Dc-; RHCE*02N. 08; RHCE-D(5-9)-CE; third-generation sequencing
From: Chinese Journal of Blood Transfusion 2025;38(8):1101-1106
CountryChina
Language:Chinese
Abstract: Objective: To reveal the molecular biological mechanism of a rare Dc-variant individual using PacBio third-generation sequencing technology. Methods: ABO and Rh blood type identification, DAT, unexpected antibody screening and D antigen enhancement test were conducted by serological testing. The absorption-elution test was used to detect the e antigen. RHCE gene typing was performed by PCR-SSP, and the 1-10 exons of RHCE were sequenced by Sanger sequencing. The full-length sequences of RHCE, RHD and RHAG were detected by PacBio third-generation sequencing technology. Results: Serological findings: Blood type O, Dc-phenotype, DAT negative, unexpected antibody screening negative; enhanced D antigen expression; no detection of e antigen in the absorption-elution test. PCR-SSP genotyping indicated the presence of only the RHCE c allele. Sanger sequencing results: Exons 5-9 of RHCE were deleted, exon 1 had a heterozygous mutation at c. 48G/C, and exon 2 had five heterozygous mutations at c. 150C/T, c. 178C/A, c. 201A/G, c. 203A/G and c. 307C/T. Third-generation sequencing results: RHCE genotype was RHCE 02N. 08/RHCE-D(5-9)-CE; RHD genotype was RHD 01/RHD 01; RHAG genotype was RHAG 01/RHAG 01 (c. 808G>A and c. 861G>A). Conclusion: This Dc-individual carries the allele RHCE 02N. 08 and the novel allele RHCE-D(5-9)-CE. The findings of this study provide data support and a theoretical basis for elucidating the molecular mechanisms underlying RhCE deficiency phenotypes.