Genetical study of mutation in maternal-fetal ABO incompatibility
| Autor: | Jian-hua Hao, Bao Zheng, Ping-ping Fa, Feng-lan Hu, Xue-na Lin, Su-yan Yu, Zhong-qing Yu, Lihua Hu, Jian-hua Zhang, Qiong Cheng |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
medicine.drug_class Molecular Sequence Data Biomedical Engineering Cis AB Monoclonal antibody Biochemistry Polymerase Chain Reaction ABO Blood-Group System Biomaterials Antigen Pregnancy ABO blood group system Sequence Homology Nucleic Acid Genetics medicine Humans Allele Maternal-Fetal Exchange Earth-Surface Processes DNA Primers Blood type biology Base Sequence Sequence Analysis DNA Molecular biology Agglutination (biology) Mutation biology.protein Female Antibody |
| Zdroj: | Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban. 35(2) |
| ISSN: | 1672-0733 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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