title: [Para-Bombay phenotype caused by combined heterozygote of two bases deletion on fut1 alleles].
abstract: This study was purposed to investigate the molecular basis of a para-Bombay phenotype for screening and identification of rare blood group. ABO and H phenotypes of the proband were identified by serological techniques. The exon 6 to exon 7 of ABO gene and full coding region of α-1,2-fucosyltransferase (fut1) gene of the proband were analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of compound heterozygote of fut1 was also identified by cloning sequencing. The results indicated that a rare para-Bombay phenotype was confirmed by serological techniques. Two deletion or insertion variant sites near nucleotide 547 and 880 were detected in fut1 gene. The results of cloning sequence showed that one haplotype of fut1 gene was two bases deletion at 547-552 (AGAGAG→AGAG), and another one was two bases deletion at position 880-882 (TTT→T). Both two variants caused a reading frame shift and a premature stop codon. It is concluded that a rare para-Bombay phenotype is found and confirmed in blood donor population. The molecular basis of this individual is compound heterozygote of two bases deletion on fut1 gene which weaken the activity of α-1, 2-fucosyltransferase.
authors.affiliation: Institute of Transfusion Medicine, Blood Center of Zhejiang Province, Hangzhou 310006, Zhejiang Province, China.
authors.forename: Kan-Rong
authors.initials: KR
authors.lastname: Ma
authors.forename: Shu-Dan
authors.initials: SD
authors.lastname: Tao
authors.forename: Xiao-Fei
authors.initials: XF
authors.lastname: Lan
authors.forename: Xiao-Zhen
authors.initials: XZ
authors.lastname: Hong
authors.forename: Xian-Guo
authors.initials: XG
authors.lastname: Xu
authors.forename: Fa-Ming
authors.initials: FM
authors.lastname: Zhu
authors.forename: Hang-Jun
authors.initials: HJ
authors.lastname: Lü
authors.forename: Li-Xing
authors.initials: LX
authors.lastname: Yan
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D020029:Base Pairing; D005260:Female; D005647:Fucosyltransferases / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase