Molecular Mechanism of a Rhesus D Variant Individual with RHD*845A/1227A / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1150-1154, 2023.
Article
in Zh
| WPRIM
| ID: wpr-1009972
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic mutation mechanism of a rare Rhesus D variant individual.@*METHODS@#Regular serological assay was used for determination of Rh type for the sample. Indirect anti-human globulin test (IAT) was used to confirm the RhD antigen and screen the antibodies. D-screen reagent was used to analyze the RhD epitopes of the sample. RHD genotype and RHD zygosity testing of the sample were detected by palymerase chain reaction with sequence-specific primers (PCR-SSP). The full length coding region of RHD gene was sequenced. RHD mRNA was detected using reverse transcription polymerase chain reaction (RT-PCR). The PCR products were cloned and sequenced.@*RESULTS@#The RhD blood group of the sample was determined as weak D, and the Rh phenotype was CcDEe. The antibody screening was negative. The sample tested with all monoclonal anti-Ds in D-screen showed the D epitope profiles as partial D types. The analysis of RHD gene sequence indicated that the individual with RHD c.845G/A and RHD c.1227G/A base heterozygosis. Three kinds of alternative splicing isoforms were obtained by TA cloning and sequencing.@*CONCLUSION@#The object has RHD c.845G/A and RHD c.1227G/A mutation. This heterozygous mutation is responsible for the low expression of RhD antigen on the red blood cells of the sample.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
/
Rh-Hr Blood-Group System
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Blood Group Antigens
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Polymerase Chain Reaction
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Alleles
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Genotype
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Mutation
Limits:
Humans
Language:
Zh
Journal:
Journal of Experimental Hematology
Year:
2023
Type:
Article