Establishment of a genotyping method for the junior blood group and identification of a rare blood type with partial DVI.3 and Jr(a-).
10.3760/cma.j.cn511374-20220906-00606
- Author:
Shuang LIANG
1
;
Chunyan MO
;
Xiaoyang LIU
;
Yanli JI
;
Yanlian LIANG
;
Fan WU
;
Guangping LUO
;
Yuqing SU
Author Information
1. Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong 518035, China. 1051857469@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Blood Group Antigens/genetics*;
Genotype;
Genotyping Techniques;
Heterozygote;
Alleles;
Blood Donors;
Rh-Hr Blood-Group System/genetics*
- From:
Chinese Journal of Medical Genetics
2024;41(1):52-58
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To develop a genotyping method for the Junior blood type and report on a rare blood type with Jr(a-).
METHODS:Healthy O-type RhD+ volunteer donors of the Shenzhen Blood Center from January to May 2021 (n = 1 568) and a pedigree with difficult cross-matching (n = 3) were selected as the study subjects. Serological methods were used for proband's blood type identification, unexpected antibody identification, and antibody titer determination. Polymerase chain reaction-sequence specific primer (PCR-SSP) method was used for typing the proband's RhD gene. ABCG2 gene coding region sequencing and a PCR-SSP genotyping method were established for determining the genotypes of the proband and his family members and screening of Jra antigen-negative rare blood type among the 1 568 blood donors.
RESULTS:The proband's ABO and RhD blood types were respectively determined as B and partial D (RHDDVI.3/RHD01N.01), Junior blood type Jra antigen was negative, and plasma had contained anti-D and anti-Jra. Sequencing of the ABCG2 gene revealed that the proband's genotype was ABGG201N.01/ABGG201N.01 [homozygous c.376C>T (p.Gln126X) variants], which is the most common Jr(a-) blood type allele in the Asian population. Screening of the voluntary blood donors has detected no Jr(a-) rare blood type. Statistical analysis of the heterozygotes suggested that the allelic frequency for ABCG2*01N.01 (c.376T) was 0.45%, and the frequency of Jr(a-) rare blood type with this molecular background was about 0.2‰.
CONCLUSION:A very rare case of partial DVI.3 type and Jr(a-) rare blood type has been identified. And a method for identifying the Junior blood type through sequencing the coding regions of the ABCG2 gene and PCR-SSP has been established.
