Establishment of a genotyping method for the junior blood group and identification of a rare blood type with partial DVI.3 and Jr(a-) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 52-58, 2024.
Article
em Zh
| WPRIM
| ID: wpr-1009353
Biblioteca responsável:
WPRO
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.
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Base de dados:
WPRIM
Assunto principal:
Sistema do Grupo Sanguíneo Rh-Hr
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Doadores de Sangue
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Antígenos de Grupos Sanguíneos
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Alelos
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Técnicas de Genotipagem
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Genótipo
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Heterozigoto
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2024
Tipo de documento:
Article