A Case of A1B3 Child from a Group A Mother and a Group B Father: New Group B Allele Arising from 547G>A.
- Author:
Soo Hyun KIM
1
;
Duck CHO
;
Kyeong Lan CHOI
;
Kab Soog KIM
;
Chang Seok KI
;
Jeong Won SONG
;
Seung Jung KEE
;
Myung Geun SHIN
;
Jong Hee SHIN
;
Soon Pal SUH
;
Dong Wook RYANG
Author Information
1. Department of Laboratory Medicine, Seonam University Hospital, Korea.
- Publication Type:Original Article
- Keywords:
ABO subgroup;
A1B3;
ABO blood group gene;
547G>A
- MeSH:
Alleles*;
Blood Donors;
Child*;
Clone Cells;
Cloning, Organism;
Exons;
Fathers*;
Humans;
Mothers*;
Phenotype;
Serologic Tests;
Young Adult
- From:Korean Journal of Blood Transfusion
2004;15(1):45-50
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Group B subtype, A1B3, was observed in a 22-year-old blood donors by conventional serologic test. In our family study, his father demonstrated uncomplicated B phenotype and his mother typed as group A. We sequenced exon 6 and 7 of phenotypically A1B3 propositus and his family members by direct sequencing and PCR-based cloning. And we have identified a novel Bvar allele characterized by a 547G>A polymorphism present in propositus and his father. This suggests that the Bvar allele is expressed differently depending on the co-inherited ABO allele.