Serological Characteristics of Subtype A Caused by New A Allele Mutation and a Family Survey.
10.19746/j.cnki.issn.1009-2137.2023.02.029
- Author:
Fang QIU
1
,
2
;
Qin-Li DING
3
;
Jiao ZOU
3
;
Li-Ping ZOU
3
;
Yu CHEN
3
;
Ying ZHU
3
Author Information
1. Department of Blood Transfusion, The First Affiliated Hospital of Gannan Medical University, Ganzhou 341000, Jiangxi Province, China . E-mail: qf3914@
2. com.
3. Department of Blood Transfusion, The First Affiliated Hospital of Gannan Medical University, Ganzhou 341000, Jiangxi Province, China .
- Publication Type:Journal Article
- Keywords:
ABO blood group;
c.625T>G base substitution
- MeSH:
Humans;
Male;
Genotype;
Phenotype;
Alleles;
Mutation;
ABO Blood-Group System/genetics*
- From:
Journal of Experimental Hematology
2023;31(2):509-512
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:In this study, the results of forward and reverse blood typing of a male patient diagnosed as bronchiectasis were inconsistent, which were type O and type A respectively. Multiple experiments including genotyping and sequencing and family investigation were carried out to determine the subtype of ABO blood group and explore the serological characteristics of this subtype.
METHODS:Standard serological techniques were used to conduct forward and reverse typing, reverse blood typing enhancement test, H antigen identification, absorption-elution test, salivary blood group substances test, and PCR-SSP method for ABO genotyping and exon 6 and 7 sequencing.
RESULTS:The proband's blood group was type O by forward typing, but antigen A could be detected by absorption-elution test, anti-A1 could be detected by reverse blood typing enhancement test, it was found that there was substance H but no substance A in saliva, and the serological characteristics were consistent with Ael subtype. Gene sequencing analysis showed that there was a c.625T>G base substitution on the basis of A102, which had never been reported before. Family survey showed that c.625T>G base substitution appeared in three generations of the family.
CONCLUSION:In this study, a new subtype A with Ael serological characteristics caused by c.625T>G mutation was identified. c.625T>G base substitution results in the weakening of A antigen, and this mutation can be stably passed down to future generations.
