Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype.
10.3760/cma.j.cn511374-20201029-00760
- VernacularTitle:FUT1基因两种新的变异检测与一例类孟买型血型的家系分析
- Author:
Kunlian ZHANG
1
;
Fengqiu LIN
;
Xiaofeng LI
;
Xu ZHANG
;
Jianping LI
Author Information
1. Blood Center of Liaoning Province, Liaoning Provincial Key Laboratory for Blood Safety, Shenyang, Liaoning 110044, China. ljp_63@163.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
China;
Female;
Fucosyltransferases/genetics*;
Genotype;
Humans;
Phenotype
- From:
Chinese Journal of Medical Genetics
2021;38(10):1007-1011
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To study rare para-Bombay blood type Bm
METHODS:ABO and H phenotype of the proband and her pedigree were determined with serological methods. The ABO genotype was analyzed by polymerase chain reaction-sequence specific primer(PCR-SSP). The full coding region of alpha-l,2 fucosyltransferase (FUT1) gene of the pedigree was analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of the FUT1 gene were analyzed by cloning sequencing.
RESULTS:The rare para-Bombay blood type Bm
CONCLUSION:Two new alleles of FUT1 gene (h
