Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese

Annals of Clinical and Laboratory Science

Volumn 34, Issue 3, 2004, Pages 314-318

  Chen, Ding Ping ^a   Tseng, Ching Ping ^b   Wang, Wei Ting ^a   Peng, Chien Ting ^a   Tsao, Kuo Chien ^a   Wu, Tsu Lan ^a   Lin, Kuan Tsou ^c   Sun, Chien Feng ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY   (Taiwan)

^c Kaohsiung Blood Donation Center   (Taiwan)

Author keywords

ABO blood groups; Blood transfusion; h alleles; Para Bombay phenotype

Indexed keywords

ADENINE; ASPARAGINE; BLOOD GROUP A ANTIGEN; BLOOD GROUP ANTIGEN; BLOOD GROUP B ANTIGEN; BLOOD GROUP H ANTIGEN; CARBON; CYTOSINE; FRUCTOSE; FUCOSYLTRANSFERASE; GALACTOSE; LEUCINE; NUCLEOTIDE; OLIGOSACCHARIDE; PHENYLALANINE; THREONINE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD GROUP ABO SYSTEM; BLOOD TRANSFUSION; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ERYTHROCYTE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; GENETIC VARIABILITY; H GENE; HAPLOTYPE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOLECULAR CLONING; PARA BOMBAY HAPLOTYPE; POINT MUTATION; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN SYNTHESIS; TAIWAN;

ABO BLOOD-GROUP SYSTEM; ALLELES; CLONING, MOLECULAR; ERYTHROCYTES; FUCOSYLTRANSFERASES; GENETIC SCREENING; HUMANS; PHENOTYPE; POINT MUTATION; TAIWAN;

EID: 4444223961     PISSN: 00917370     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Kelly RJ, Ernst LK, Larsen RD, Bryant JG, Robinson JS, Lowe JB. Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. Proc Natl Acad Sci USA 1994;91:5843-5847.
2. Yu LC, Yang YH, Broadberry RE, Chen YH, Lin M. Heterogeneity of the human H blood group α(1,2)-fucosyltransferase gene among para-Bombay individuals. Vox Sang 1997;72:36-40.
3. Wang B, Koda Y, Soejima M, Kimura H. Two missense mutations of H type α(1,2)-fucosyltransferase gene (FUT1) responsible for para-Bombay phenotype. Vox Sang 1997;72:31-35.
4. Fernandes-Mateos P, Cailleau A, Henry S, Costache M, Elmgren A, Svensson L, Larson G, Samuelsson BE, Oriol R, Mollicone R. Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups. Vox Sang 1998;75:37-46.
5. Koda Y, Soejima M, Johnson PH, Smart E, Kimura H. Missense mutation of FUT1 and deletion of FUT2 are responsible for India Bombay phenotype of ABO blood group system. Biochem Biophys Res Commun 1997;238:21-25.
6. Kaneko M, Nishihara S, Shinya N, Kudo T, Iwasaki H, Seno T, Okubo Y, Narimatsu H. Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme. Blood 1997;90:839-849.
7. Wagner T, Vadon M, Staudacher E, Schmarda A, Gassner C, Helmberg W, Lanzer G, Flegel WA and Wagner FF. A new h allele in Europe has a missense mutation in α(1,2)-fucosyltransferase motif II. Transfusion 2001;41:31-38.
8. Wanger FF, Flegel WA. Polymorphism of the h allele and the population frequency of sporadic non-functional alleles. Transfusion 1997;37:284-290.
9. Yip SP, Chee KY, Chan PY, Chow EYD, Wong HF. Molecular genetic analysis of para-Bombay phenotypes in Chinese: a novel non-functional FUT1 allele is identified. Vox Sang 2002;83:258-262.
10. Sun CF, Lo MD, Lee CH, Chu DC. Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype. Ann Clin Lab Sci 2000;30:387-390.
11. Johnson PH, Mak MK, Leong S, Broadberry R, Duraisamy G, Gooch A, Lin M, Makar Y, Okubo Y, Smart E, Koepsall E, Ewers M. Analysis of mutations in the blood-group H gene in donors with H-deficient phenotypes. Vox Sang 1994;67(suppl 2):25.
12. Lin M, Broadberry RE. Modification of standard western pretransfusion testing procedures for Taiwan. Vox Sang 1994;67:199-202.
13. Walker RH. Technical Manual, 11th Ed. Am Assoc Blood Banks, Bethesda, MD, 1993, pp 625-626.
14. Larsen RD, Ernst LK, Nair RP, Lowe JB. Molecular cloning, sequence, and expression of a human GDP-L-fucose:β-D-galactoside 2-α-L- fucosyltransferase cDNA that can form the H blood group antigen. Proc Natl Acad Sci USA 1990;87:6674-6678.
15. Yamamoto F, Hakomori S. Sugar-nucleotide donor specificity of histo-blood group A and B transferase is based on amino acid substitutions. J Biol Chem 1990;265:19257-19262.