A novel cis-AB allele derived from the A transferase gene by nucleotide substitution C796A

Annals of Clinical and Laboratory Science

Volumn 34, Issue 4, 2004, Pages 437-442

  Chen, Ding Ping ^a   Tseng, Ching Ping ^b   Wang, Wei Ting ^a   Wang, Mei Chia ^a   Tsao, Kuo Chien ^a   Wu, Tsu Lan ^a   Sun, Chien Feng ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

ABO blood group; Blood typing; Glycosyltransferase; Paternity testing; Rare phenotype

Indexed keywords

ADENINE; BLOOD GROUP A ANTIGEN; BLOOD GROUP B ANTIGEN; CYTOSINE; GLYCOSYLTRANSFERASE; LEUCINE; METHIONINE;

A TRANSFERASE GENE; A1V ALLELE; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; B ALLELE; B TRANSFERASE GENE; BLOOD GROUP AB; BLOOD GROUP ABO SYSTEM; CHILD; CIS AB ALLELE; CODON; EXON; GENE; GENE SEQUENCE; GENERAL HOSPITAL; HUMAN; MALE; MICROSATELLITE MARKER; MOLECULAR CLONING; NORMAL HUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATERNITY TEST; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RARE PHENOTYPE; TAIWAN;

ABO BLOOD-GROUP SYSTEM; ADULT; ALLELES; BASE SEQUENCE; BLOOD GROUPING AND CROSSMATCHING; CHILD; DNA FINGERPRINTING; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; N-ACETYLGALACTOSAMINYLTRANSFERASES; PATERNITY; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 11144262185     PISSN: 00917370     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Daniels G. Human Blood Groups. Blackwell, Oxford, 1995; pp 50-53.
2. Seyfried H, Walewska B. Unusual inheritance of ABO group in a family with weak B antigens. Vox Sang 1964; 9:268-277.
3. Yoshida A, Yamaguchi H, Okubo Y. Genetic mechanism of cis-AB inheritance. I. A case associated with unequal chromosomal crossing over. Am J Hum Genet 1980;32: 332-338.
4. Yoshida A, Yamaguchi H, Okubo Y. Genetic mechanism of cis-AB inheritance. II. Cases associated with structural mutation of blood group glycosyltransferase. Am J Hum Genet 1980;32:645-650.
5. Yamamoto F, McNeill PD, Kominato Y, Yamamoto M, Hakomori S, Ishimoto S, Nishida S, Shima M, Fujimura Y. Molecular genetic analysis of the ABO blood group system: 2. cis AB alleles. Vox Sang 1993;64:120-123.
6. Mifsud NA, Watt JM, Condon JA, Haddad AP, Sparrow RL. A novel cis AB variant allele arising from a nucleotide substitution A796C in the B transferase gene.Transfusion 2000;40:1276-1277.
7. Roubinet F, Janvier D, Blancher A. A novel cis AB allele derived from a B allele through a single point mutation. Transfusion 2002;42:239-246.
8. Yamamoto F, Hakomori S. Sugarinucleotide donor specificity of histo-blood group A and B transferase is based on amino acid substitutions. J Biol Chem 1990; 265:19257-19262.
9. (A) alleles. Vox Sang 1993;64: 171-174.
10. Yu LC, Lee HL, Chan YS, Lin M. The molecular basis for the B(A) allele: an amino acid alteration in the human histoblood group B α-(1,3)- galactosyl-transferase increases its intrinsic α-(1,3)-N- acetylgalactosaminyl-transferase activity. Biochem Biophys Res Commun 1999; 262:487-493.