Identification of a novel FUT1 allele of para-Bombay phenotype.
10.3760/cma.j.issn.1003-9406.2019.06.027
- Author:
Lu YU
1
;
Yunlei HE
;
Deyi XU
;
Wenyu GUO
;
Gang DENG
Author Information
1. Central Blood Station of Ningbo, Zhejiang 315010, China. Email: 80625346@qq.com.
- Publication Type:Case Reports
- MeSH:
ABO Blood-Group System;
Alleles;
Female;
Fucosyltransferases;
genetics;
Genotype;
Humans;
Phenotype
- From:
Chinese Journal of Medical Genetics
2019;36(6):636-638
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular basis for an individual with para-Bombay phenotype of the H blood group.
METHODS:Intron 5 to 3'-UTR of the ABO gene and exon 4 of the FUT1 gene were amplified with PCR and subjected to direct sequencing. Mutations of the FUT1 gene were identified by TOPO cloning sequencing.
RESULTS:Direct sequencing showed that her ABO genotype was B101/O01. TOPO cloning sequencing found that this individual had three mutations of the FUT1 gene, including an heterozygous AG deletion (CAGAGAG→CAGAG) at position 547 to 552, and two C→T mutations at positions 35 (C35T) and 293 (C293T) on the other homologous chromosome. The two alleles comprised a new recombination of mutations c.35T>C and c.293C>T, and the sequence has been submitted to NCBI (No. MG597611).
CONCLUSION:A novel combination of FUT1 alleles with c.35 C>T and c.293C>T has been identified in an individual with para-Bombay phenotype.
