- VernacularTitle:ABO*O04等位基因表达弱A抗原的序列分析
- Author:
Xu ZHANG
1
;
Jianping LI
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; Adult; Base Sequence; China; Exons; Female; Humans; Molecular Sequence Data; Young Adult
- From: Chinese Journal of Medical Genetics 2015;32(4):558-561
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the molecular basis of O04 allele expression of weak A antigen at the ABO locus.
METHODSSerological assays were performed to characterize the erythrocyte phenotype of a proband. Mutations of the ABO gene were screened with polymerase chain reaction (PCR), reverse-transcription PCR (RT-PCR) and DNA sequencing.
RESULTSThe proband was identified as weak AB phenotype by serological assays. A B101 allele and an O04 allele were identified by gene sequencing, gene cloning and RT-PCR.
CONCLUSIONA B101 allele and an O04 allele were confirmed by the sequencing based typing in a suspicious ABO blood group. The O04 allele is characterized by expression of weak A antigen.