Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype

Annals of Clinical and Laboratory Science

Volumn 30, Issue 4, 2000, Pages 387-390

  Sun, C F ^a   Lo, M D ^a   Lee, C H ^a   Chu, D C ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

DNA analysis; Fucosyltransferase; FUT1 gene; Missense mutation; Para Bombay phenotype

Indexed keywords

BLOOD GROUP ABH ANTIGEN; DNA; FUCOSYLTRANSFERASE;

ALLELE; ARTICLE; CASE REPORT; DNA SEQUENCE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ABO BLOOD-GROUP SYSTEM; ANTIGENS, BACTERIAL; BASE SEQUENCE; CASE REPORT; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EXONS; FUCOSYLTRANSFERASES; HAPLOTYPES; HUMAN; MALE; MUTATION, MISSENSE; PHENOTYPE; TAIWAN;

EID: 0033789821     PISSN: 00917370     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. A new genetic model proposing that the Se gene is a structural gene closely linked to the H gene
2. The presence of at least two different H-blood-group-related β-D- Gal-α-2-L-fucosyltransferases in human serum and the genetics of blood group H substances
3. Biochemistry and genetics of the ABO, Lewis, and P blood group systems
4. Biochemical evidence that secretor gene, Se, is a structural gene encoding a specific fucosyltransferase
5. Purification of H gene-encoded beta-galactoside α(1-2)-fucosyltransferase from human serum
6. Heterogeneity of the human H blood group α(1,2)-fucosyltransferase gene among para-Bombay individuals
7. Two missense mutations of H type α(1,2)-fucosyltransferase gene (FUT1) responsible for para-Bombay phenotype
8. The human gene mutation database
9. Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups
10. Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals
11. Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system
12. Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme
13. Changing transcription start sites in H-type α(1,2)-fucosyltransferase gene (FUT1) during differentiation of the human erythroid lineage