Whole exome sequencing and pedigree analysis for a case with an ABw03 subtype.
10.3760/cma.j.issn.1003-9406.2019.07.020
- VernacularTitle:一例ABw03亚型的全编码区测序及家系分析
- Author:
Wen WU
1
;
Zhibo ZHANG
;
Na YANG
;
Yanqing WANG
;
Xiangyan HUANG
Author Information
1. Department of Blood Transfusion, the 960th Hospital of PLA, Jinan, Shandong 250031, China. xiangyan73@aliyun.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System;
genetics;
Amino Acid Substitution;
Female;
Genotype;
Humans;
Male;
Pedigree;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(7):734-736
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular basis for a blood donor with an ABO subtype.
METHODS:The proband and his family members were subjected to serological analysis. Their genotypes were determined by real-time PCR and sequencing of the coding regions of ABO gene.
RESULTS:The proband was determined as an ABw subtype. By sequencing analysis, the proband was typed as A102/BW03. Compared with ABO*B.01, the proband was found to harbor a 721C>T variant (ABO*BW.03 allele) in exon 7 of the ABO gene, which caused substitution of Arginine at position 241 by Tryptophan resulting in a ABW phenotype. The blood type of the proband's sister was similar to that of the proband. The maternal serological pattern was B type, and the result of sequencing suggested that the genotype fit with B101/Bw03.
CONCLUSION:The 721C>T in the exon 7 of the ABO glycosyltransferase gene probably underlies the Bw03 phenotype. The ABO*Bw.03 variant of the proband and his sister were inherited from their mother.
