Para-Bombay phenotype due to bi-allelic heterozygous base deletions of FUT1 gene.
10.3760/cma.j.cn511374-20211124-00934
- VernacularTitle:双等位基因杂合性碱基缺失致类孟买血型一例
- Author:
Ziyi HE
1
;
Yingming HU
;
Xianguo XU
;
Yuanjun WU
;
Siping CUI
Author Information
1. Blood Transfusion Laboratory, Dongguan Blood Center, Dongguan, Guangdong 523000, China. yjs001@163.com.
- Publication Type:Journal Article
- MeSH:
Animals;
Male;
ABO Blood-Group System/genetics*;
Alleles;
Fucosyltransferases/genetics*;
Genotype;
Heterozygote;
Mutation;
Phenotype;
Humans
- From:
Chinese Journal of Medical Genetics
2022;39(11):1290-1293
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic mechanism underlying a case with para-Bombay phenotype.
METHODS:The ABO and Lewis phenotype were identified with serological methods. The coding regions of exons 6 and 7 of the ABO and FUT1 genes were amplified with PCR and directly sequenced. Haploid sequence analysis was carried out on the variant sites of the FUT1 gene.
RESULTS:Serological analysis confirmed that the proband has a rare para-Bombay phenotype. Direct sequencing revealed that he was a B.01/O.01.02 heterozygote for the ABO gene, and had heterozygous deletion for the 768 and 881-882 sites of the FUT1 gene. Further haploid analysis showed that the c.881_882delTT deletion has occurred in one haploid while c.768delC was present in the other haploid. The proband was therefore determined as a FUT1*01N.13/01N.20 heterozygote, which have resulted in frameshift in polypeptide chain p.Phe294Cysfs*40 and p.Val257Phefs*23, respectively.
CONCLUSION:A rare bi-allelic heterozygous deletion of para-Bombay phenotype has been identified in a blood donor. The c.881_882delTT and c.768delC deletions may decrease the activity of α-1,2-fucosyltransferase.
