title: [Formation of para-Bombay phenotype caused by homozygous or heterozygous mutation of FUT1 gene].
abstract: This study was aimed to explore the molecular mechanisms for para-Bombay phenotype formation. The H antigen of these individuals were identified by serological techniques. The full coding region of alpha (1, 2) fucosyltransferase (FUT1) gene of these individuals was amplified by high-fidelity polymerase chain reaction (PCR). PCR product was identified by TOPO cloning sequencing. Analysis and comparison were used to explore the mechanisms of para-bombay phenotype formation in individuals. The results indicated that the full coding region of FUT1 DNA was successfully amplified by PCR and gel electrophoresis. DNA sequencing and analysis found that h1 (547-552delAG) existed in one chromosome and h4 (35C > T) existed in the other chromosome of NO.1 individual. Meantime, h1 (547-552delAG) was found in two chromosomes of NO.2 and NO.3 individual. It also means that FUT1 gene of NO.1 individual was h1h4 heterozygote, FUT1 gene of NO.2 and NO.3 individuals were h1h1 homozygote. It is concluded that homozygous and heterozygous mutation of FUT1 gene can lead to the formation of para-Bombay phenotype.
authors.affiliation: Department of Blood Transfusion, Xiamen University Affiliated Fuzhou Second Hospital, Fuzhou 350001, Fujian Province, China. E-mail: 1007915570@qq.com.
authors.forename: Jin-Ping
authors.initials: JP
authors.lastname: Zhang
authors.affiliation: Department of Blood Transfusion, Xiamen University Affiliated Fuzhou Second Hospital, Fuzhou 350001, Fujian Province, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zheng
authors.affiliation: Department of Laboratorial Medicine, Xiamen University Affiliated Fuzhou Second Hospital, Fuzhou 350001, Fujian Province, China.
authors.forename: Dong-Ni
authors.initials: DN
authors.lastname: Sun
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005647:Fucosyltransferases / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase