Sequence analysis for a case with Para-Bombay AB blood type.
10.3760/cma.j.cn511374-20200605-00411
- Author:
Xuejiao CAI
1
;
Xuebing ZHANG
;
Xiangjing ZHOU
;
Zuoting XIE
Author Information
1. Department of Blood Transfusion, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. 942118013@qq.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
Alleles;
Fucosyltransferases/genetics*;
Genotype;
Humans;
Male;
Phenotype;
Sequence Analysis
- From:
Chinese Journal of Medical Genetics
2021;38(8):809-811
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular basis for a rare case with Para-Bombay AB blood type.
METHODS:Serological method was used to determine the blood type of the proband. Exons 6 and 7 of the ABO gene and the coding regions of FUT1 and FUT2 genes were analyzed by direct sequencing.
RESULTS:Serological results showed that the proband was a Para-Bombay AB subtype. His genotype was determined as ABO*A1.02/B.01. The proband was also found to harbor c.551-552delAG and c.881-882delTT of the FUT1 gene. For his four children, there were three type B and one type A, though the expression of the H type was normal.
CONCLUSION:The double deletions in the coding region of the FUT1 gene probably underlay the Para-Bombay blood type in the proband. Carrier of single-strand deletions may have a normal ABO phenotype.
