Genetical study of mutation in maternal-fetal ABO incompatibility.
10.1007/s11596-015-1429-4
- Author:
Zhong-qing YU
1
;
Feng-lan HU
;
Qiong CHENG
;
Jian-hua HAO
;
Jian-hua ZHANG
;
Xue-na LIN
;
Bao ZHENG
;
Ping-ping FA
;
Su-yan YU
;
Li-hua HU
Author Information
1. Department of Blood Transfusion, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China, yuzhqing@sina.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System;
genetics;
immunology;
Adult;
Base Sequence;
DNA Primers;
Female;
Humans;
Maternal-Fetal Exchange;
Molecular Sequence Data;
Mutation;
Polymerase Chain Reaction;
Pregnancy;
Sequence Analysis, DNA;
Sequence Homology, Nucleic Acid
- From:
Journal of Huazhong University of Science and Technology (Medical Sciences)
2015;35(2):309-315
- CountryChina
- Language:English
-
Abstract:
This study looked into a family involving a rare mother-child ABO blood type inconsistency and explored its genetic and molecular basis. In the family, the mother had type AB blood and the father was blood type B and they gave birth to a baby of blood type O. Their blood types were phenotypically identified by using different techniques, including micro-column gel test, immune inhibition test, absorption and elution tests. The sequences of all 7 exons of ABO allele from the core family members were determined by using PCR and clone-based sequencing. The loci of mutated gene were compared against normal human genes. The result showed that the mother's erythrocytes were agglutinable with monoclonal anti-A antibody (2+) and had agglutination reaction with anti-B antibody (4+). The mother's serum registered agglutination action with standard blood type A cells. The findings showed an ABO inconsistency. When domestic antibodies were used, the mother's erythrocytes yielded agglutination reaction with humanized anti-B serum (4+) and anti-B monoclonal antibody but were non-agglutinable with humanized anti-A serum and anti-A monoclonal antibody. Upon absorption and elution, the titer of anit-A antibody was 128 both before and after the absorption test, with no significant difference found between pre- and post-absorption values. Our results confirmed that the mother's allelic gene was type B and contained type A. The father's blood type was type B, and son's blood type was type O. Clone-based sequencing revealed that the mother carried a heterozygous gene of B101.01 (ntA640→G)/O01, which contained an M214→V mutation that could express a weak expression of antigen A, resulting in blood type AB. However, their son did not have the M214→V mutation, which yielded a false ABO-inconsistency between him and his mother. We were led to conclude that type B gene with a M214→V mutation can encode both antigen B and weak antigen B that can lead to false ABO-inconsistencies.
