Investigation of ABO allelic competition phenomena in a pedigree with Bw11 subtype.
10.3760/cma.j.cn511374-20200103-00004
- Author:
Chenchen FENG
1
;
Weichao REN
;
Daosheng CHENG
;
Jingyan GAO
;
Jianyong CHEN
;
Weichao LI
;
Jianyu XIAO
;
Taixiang LIU
;
Chengyin HUANG
;
Qing CHEN
Author Information
1. Jiangsu Province Blood Center, Nanjing, Jiangsu 210042, China. chenqing90@yahoo.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
Alleles;
Female;
Genotype;
Humans;
Male;
Pedigree;
Phenotype
- From:
Chinese Journal of Medical Genetics
2021;38(1):23-26
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the serological and molecular characteristics of a pedigree carrying an allele for ABO*BW.11 blood subgroup.
METHODS:The ABO blood type of 9 pedigree members were determined by serological methods. Exons 6 and 7 of the ABO gene were amplified by PCR and directly sequenced. The patient and her father were also subjected to clone sequencing analysis.
RESULTS:Serological tests demonstrated that the proband and her younger brother had an ABw subtype, whilst her father and two daughters had Bw subtype. Clone sequencing found that the exon 7 of the ABO gene of the proband had a T>C substitution at position 695, which was identified as a BW.11 allele compared with the reference sequence B.01. This BW.11 allele was also identified in the proband's father, brother and two daughters. Due to allelic competition, the A/BW.11 and BW.11/O alleles demonstrated significantly different phenotypes.
CONCLUSION:The c.695T>C substitution of the ABO gene may lead to allelic competition in the Bw11 subtype. Combined molecular and serological methods is helpful for precise blood grouping.
