Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype.
- Author:
Fengqiu LIN
1
;
Changping SUN
;
Hui WANG
;
Xu ZHANG
;
Jianping LI
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; Base Sequence; DNA Mutational Analysis; methods; DNA Primers; Fucosyltransferases; genetics; Genotype; Homozygote; Humans; Male; Phenotype; Point Mutation; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2015;32(6):834-836
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the molecular mechanism for a case with para-Bombay phenotype caused by α-1,2-fucosyltransferase (FUT1) gene mutations.
METHODSBlood phenotype of the propositus was determined by standard serological testing. Polymerase chain reaction-sequence specific primer (PCR-SSP) and direct sequencing of PCR product were used to analyze its ABO genotype. The PCR product of FUT1 gene was sequenced and analyzed.
RESULTSThe phenotype of the propositus was initially detected as para-Bombay A type. Direct sequencing of ABO gene showed that the genotype of the proband was A101/O01 (261G/del), which was consistent with the result of PCR-SSP. Two homo-mutations, 35C>T and 658C>T, were detected in the FUT1 gene by sequencing, and the genotype was determined as h(35T+658T)/h(35T+658T).
CONCLUSIONh(35T+658T)/h(35T+658T) is responsible for the para-Bombay phenotype of the propositus. The genotype is rare even in para-Bombay populations.
