title: [Molecular genetic basis for para-Bombay phenotypes in two cases].
abstract: This study was purposed to investigate the molecular genetics basis for para-Bombay phenotype. The para-Bombay phenotype of two probands was identified by routine serological techniques. The full coding region of alpha (1, 2) fucosyltransferase gene (FUT1 and FUT2) in the probands was amplified by polymerase chain reaction and the amplified fragments were directly sequenced, meanwhile the mutations of FUT1 were also identified by TOPO TA cloning sequence method. The results indicated that two heterozygous mutations were detected by directly sequencing in two probands: AG deletion at position 547 - 552 and C to T mutation at position 658. Two different mutations were confirmed to be true compound heterozygotes with each mutation on a separate homologous chromosome by TOPO TA cloning sequence method. AG deletion at position 547 - 552 caused a reading frame shift and a premature stop codon. C658T mutation resulted in Arg-->Cys at amino acid position 220. It is suggested that the FUT1 mutation of two probands are compound heterozygous mutation with different chromosomes, which are named h1h3 and may be the genetics basis of para-Bombay phenotype.
authors.affiliation: Department of Blood Transfusion, The First Hospital, Zhejiang University, Hangzhou 310003, China.
authors.forename: Yang-Ming
authors.initials: YM
authors.lastname: He
authors.forename: Xian-Guo
authors.initials: XG
authors.lastname: Xu
authors.forename: Fa-Ming
authors.initials: FM
authors.lastname: Zhu
authors.forename: Li-Xing
authors.initials: LX
authors.lastname: Yan
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D016368:Frameshift Mutation; D005647:Fucosyltransferases / Q000235:genetics*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase