Document Detail

Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme.
MedLine Citation:
PMID:  9226185     Owner:  NLM     Status:  MEDLINE    
The H genes, encoding an alpha1,2fucosyltransferase, which defines blood groups with the H structure, of four Bombay and 13 para-Bombay Japanese individuals were analyzed for mutations. Four Bombay individuals were homologous for the same null H allele, which is inactivated by a single nonsense mutation at position 695 from G to A (G695A), resulting in termination of H gene translation. The allele inactivated by the G695A was designated h1. The other 13 para-Bombay individuals possessed a trace amount of H antigens on erythrocytes regardless of their secretor status. Sequence analysis of their H genes showed four additional inactivated H gene alleles, h2, h3, h4, and h5. The h2 allele possesed a single base deletion at position 990 G (990-del). The h3 and h4 alleles possessed a single missense mutation, T721C, which changes Tyr 241 to His, and G442T, which changes Asp148 to Tyr, respectively. The h5 allele possessed two missense mutations, T460C (Tyr154to His) and G1042A (Glu348to Lys). The h2, h3, h4, and h5 enzymes directed by these alleles were not fully inactivated by the deletion and the missense mutations expressing some residual enzyme activity resulting in synthesis of H antigen on erythrocytes. Thirteen para-Bombay individuals whose erythrocytes retained a trace amount of H antigen were determined to be heterozygous or homozygous for at least one of h2, h3, h4, or h5 alleles. This clarified that the levels (null to trace amount) of H antigen expression on erythrocytes of Bombay and para-Bombay individuals are determined solely by H enzyme activity. These mutations found in the Japanese H alleles differ from a nonsense mutation found in the Indonesian population. To determine the roles of the H, Se, and Le genes in the expression of H antigen in secretions and Lewis blood group antigen on erythrocytes, the Lewis and secretor genes were also examined in these Bombay and para-Bombay individuals. The Lewis blood group phenotype, Le(alpha- b+), was determined by the combinatorial activity of two fucosyltransferases, the Lewis enzyme and the secretor enzyme, and the secretor status was solely determined by the secretor enzyme activity, not by H enzyme activity. Bombay individuals were confirmed to be homozygous for the inactivated H and Se genes. As expected from the very low frequency of Bombay and para-Bombay individuals in the population, ie, approximately one in two or 300,000, the H gene mutations were found to be very variable, unlike the cases of the point mutations in the other glycosyltransferase genes; the ABO genes, the Lewis gene, and the secretor gene.
M Kaneko; S Nishihara; N Shinya; T Kudo; H Iwasaki; T Seno; Y Okubo; H Narimatsu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Blood     Volume:  90     ISSN:  0006-4971     ISO Abbreviation:  Blood     Publication Date:  1997 Jul 
Date Detail:
Created Date:  1997-08-07     Completed Date:  1997-08-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  839-49     Citation Subset:  AIM; IM    
Division of Cell Biology, Institute of Life Science, Soka University, Hachioji, Tokyo, Japan.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AB004859;  AB004860;  AB004861;  AB004862;  AB004863
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MeSH Terms
Aspartic Acid
Base Sequence
DNA Primers
Erythrocytes / enzymology,  immunology
Fucosyltransferases / blood,  deficiency,  genetics*
Point Mutation*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Sequence Deletion*
Reg. No./Substance:
0/DNA Primers; 55520-40-6/Tyrosine; 56-84-8/Aspartic Acid; 73-24-5/Adenine; 73-40-5/Guanine; EC 2.4.1.-/Fucosyltransferases; EC 2-alpha-L-fucosyltransferase

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