Biomaterial Database

[Molecular genetic basis for para-Bombay phenotypes in two cases]. 2007

Yang-Ming He, and Xian-Guo Xu, and Fa-Ming Zhu, and Li-Xing Yan

Department of Blood Transfusion, The First Hospital, Zhejiang University, Hangzhou 310003, China.

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D005647	Fucosyltransferases	Enzymes catalyzing the transfer of fucose from a nucleoside diphosphate fucose to an acceptor molecule which is frequently another carbohydrate, a glycoprotein, or a glycolipid molecule. Elevated activity of some fucosyltransferases in human serum may serve as an indicator of malignancy. The class includes EC 2.4.1.65; EC 2.4.1.68; EC 2.4.1.69; EC 2.4.1.89.	Fucosyltransferase
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000017	ABO Blood-Group System	The major human blood type system which depends on the presence or absence of two antigens A and B. Type O occurs when neither A nor B is present and AB when both are present. A and B are genetic factors that determine the presence of enzymes for the synthesis of certain glycoproteins mainly in the red cell membrane.	ABH Blood Group,ABO Blood Group,ABO Factors,Blood Group H Type 1 Antigen,H Blood Group,H Blood Group System,ABO Blood Group System,Blood Group, ABH,Blood Group, ABO,Blood Group, H,Blood-Group System, ABO,Factors, ABO,System, ABO Blood-Group
D000097631	Galactoside 2-alpha-L-fucosyltransferase	Catalyzes the transfer of L-fucose to the terminal galactose residue of glycoconjugates through an alpha-(1,2) linkage leading to H antigen synthesis.	Blood Group H Fucosyltransferase,Blood Group H alpha-2-fucosyltransferase,Galactoside 2-fucosyltransferase,Guanosine Diphosphofucose-glycoprotein 2-alpha-L-fucosyltransferase,Secretor Blood Group alpha-2-fucosyltransferase,Alpha-2-L-fucosyltransferase,Alpha-2-fucosyltransferase,Fucosyltransferase 1,Fucosyltransferase 2,GDP-L-fucose-beta-D-galactoside 2-alpha-L-fucosyltransferase,GDP-L-fucose-beta-D-galactosyl alpha-2-L-fucosyltransferase,GDP-L-fucose-galactoside-2'-fucosyltransferase,GDP-L-fucose-lactose fucosyltransferase,GDPFG-2-fucosyltransferase,Gal alpha1-2 fucosyltransferase,Galactoside 2-alpha-L-fucosyltransferase 1,Galactoside 2-alpha-L-fucosyltransferase 2,beta-galactoside alpha-1,2-fucosyltransferase,beta-galactoside alpha1,2-fucosyltransferase
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
D016368	Frameshift Mutation	A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.	Mutation, Frameshift,Frame Shift Mutation,Out-of-Frame Deletion,Out-of-Frame Insertion,Out-of-Frame Mutation,Deletion, Out-of-Frame,Deletions, Out-of-Frame,Frame Shift Mutations,Frameshift Mutations,Insertion, Out-of-Frame,Insertions, Out-of-Frame,Mutation, Frame Shift,Mutation, Out-of-Frame,Mutations, Frame Shift,Mutations, Frameshift,Mutations, Out-of-Frame,Out of Frame Deletion,Out of Frame Insertion,Out of Frame Mutation,Out-of-Frame Deletions,Out-of-Frame Insertions,Out-of-Frame Mutations
D017353	Gene Deletion	A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.	Deletion, Gene,Deletions, Gene,Gene Deletions
D020125	Mutation, Missense	A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)	Missense Mutation,Missense Mutations,Mutations, Missense