Serological and molecular study of a novel B(A) allele with multiple missense mutations.
10.3760/cma.j.cn511374-20191126-00605
- VernacularTitle:一例多位点突变导致的罕见B(A)型的血清学及分子遗传学研究
- Author:
Bin HAN
1
;
Shaoqiang ZHANG
;
Yuli ZHU
;
Zhihui FENG
;
Shutao PANG
Author Information
1. Qingdao Blood Center, Shandong 266071, China. qdxzxxs@163.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
Alleles;
Base Sequence;
Exons/genetics*;
Humans;
Mutation, Missense;
Phenotype
- From:
Chinese Journal of Medical Genetics
2021;38(1):20-22
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular basis for an individual suspected as AwB subtype through DNA sequencing.
METHODS:ABO serology was carried out with the standard tube method. To identify the ABO gene haplotype, the amplicons of exon 7 were cloned and sequenced.
RESULTS:Serological results showed that the forward typing was AwB and the reverse typing was B. Sequencing analysis revealed that the sample has contained an O01 allele in addition with c.297A>G, c.657C>T, c.796C>A, c.803G>C, c.930G>A variants as compared with the A101 allele.
CONCLUSION:Through sequencing analysis, the sample with an AwB subtype by serological testing was identified as a novel B(A) phenotype, which was unreported previously.
