Molecular genetic analysis of two individuals with weak D variant of the Rh blood type.
10.3760/cma.j.cn511374-20200806-00587
- Author:
Yunlei HE
1
;
Lu YU
;
Deyi XU
;
Jiwei ZHANG
;
Gang DENG
Author Information
1. Ningbo Central Blood Station, Ningbo, Zhejiang 315000, China. dgflying@126.com.
- Publication Type:Journal Article
- MeSH:
Alleles;
Blood Donors;
Blood Grouping and Crossmatching;
Genotype;
Humans;
Molecular Biology;
Phenotype;
Rh-Hr Blood-Group System/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(5):492-495
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular basis of two individuals with weak D variant of the Rh blood type.
METHODS:Routine serological testing was carried out to detect the D, C, c, E and e antigens of the Rh blood group. The D antigen was further detected with an indirect antiglobulin test. The presence of Rhesus box was detected by PCR to determine the homozygosity of the RHD gene.
RESULTS:Both samples were determined as weak D phenotype by the indirect antiglobulin test. DNA sequencing revealed that case 1 harbored a heterozygous 208C>T variant in exon 2 and a heterozygous 1227G>A variant in exon 9; while case 2 harbored homozygous 779A>G variants of exon 5 of the RHD gene. Case 1 was determined as RHD+/RHD+, while case 2 was determined as RHD+/RHD-. The two samples were respectively named as weak D type 122 and weak D type 149 based on the rules of Rhesus Base Nomenclature.
CONCLUSION:D negative blood donors should subject to indirect antiglobulin testing and molecular analysis for safer transfusion.
