title: [Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype].
abstract: OBJECTIVE
  To explore the molecular mechanism for a case with para-Bombay phenotype caused by α-1,2-fucosyltransferase (FUT1) gene mutations.
  
  
  METHODS
  Blood 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.
  
  
  RESULTS
  The 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).
  
  
  CONCLUSIONS
  h(35T+658T)/h(35T+658T) is responsible for the para-Bombay phenotype of the propositus. The genotype is rare even in para-Bombay populations.
authors.affiliation: Liaoning Blood Center, Shenyang, Liaoning 110044, P.R. China. ljp_63@163.com.
authors.forename: Fengqiu
authors.initials: F
authors.lastname: Lin
authors.forename: Changping
authors.initials: C
authors.lastname: Sun
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.forename: Xu
authors.initials: X
authors.lastname: Zhang
authors.forename: Jianping
authors.initials: J
authors.lastname: Li
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers; D005647:Fucosyltransferases / Q000235:genetics*; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D000017:ABO Blood-Group System; D017931:DNA Primers; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase