Genotypic and phenotypic characterization of the histoblood group ABO(H) in primary bladder tumors Journal Article


Authors: Orlow, I.; Lacombe, L.; Pellicer, I.; Rabbani, F.; Delgado, R.; Zhang, Z. F.; Szijan, I.; Cordón-Cardo, C.
Article Title: Genotypic and phenotypic characterization of the histoblood group ABO(H) in primary bladder tumors
Abstract: The ABO(H) histoblood group genes have been mapped by linkage analysis to 9q34.1-34.2, an area of common deletions in bladder cancer. Lack of ABO(H) antigen expression in bladder tumors is a frequent and well-documented event. In bladder neoplasms the loss of A and B transferase activity is due to down- regulation of the ABO gene transcripts. Our study was undertaken in order to determine the presence of structural alterations of the ABO(H) gene-encoding locus in primary bladder tumors, to estimate the extent of allelic deletions and to characterize further the pattern of histoblood group antigen expression. Fifty-three primary bladder tumors were analyzed by immuno- histochemistry (IHC) using a panel of well-characterized antibodies and fresh frozen tissue sections. Normal and tumor DNA also were analyzed by PCR coupled with restriction enzyme analysis in order to establish the ABO genotype. Results obtained from these analyses were then compared to allelotyping data at the 9q34.1-4 region by Southern blotting. IHC data showed undetectable levels of antigen expression on neoplastic cells in 59% of informative cases. PCR-based genotypic results revealed allelic losses in 27% of heterozygous cases. Four of the 16 pheno- and/or genotypically altered cases (25%) presented loss of heterozygosity of D9S10 or D9S7 loci. Our data indicate that the lack of ABO antigen expression in certain bladder tumors is due to the allelic loss of the ABO glycosyl-transferase-encoding genes and that in some of these tumors the loss involves the surrounding chromosomal region at 9q34.1-4.
Keywords: immunohistochemistry; controlled study; human tissue; major clinical study; gene deletion; genetics; polymerase chain reaction; antigen expression; phenotype; blood group abo system; gene locus; genotype; abo blood-group system; chromosomes, human, pair 9; tumor antigen; bladder tumor; urinary bladder neoplasms; gene expression regulation; gene mapping; gene expression regulation, neoplastic; immunology; dna; antigens, neoplasm; dna, neoplasm; urinary bladder; gene loss; restriction endonuclease; heterozygosity loss; loss of heterozygosity; genetic linkage; bladder; chromosome 9; chromosome 9q; glycosyltransferase; humans; human; priority journal; article; blood group abh antigen
Journal Title: International Journal of Cancer
Volume: 75
Issue: 6
ISSN: 0020-7136
Publisher: John Wiley & Sons  
Date Published: 1998-03-16
Start Page: 819
End Page: 824
Language: English
DOI: 10.1002/(sici)1097-0215(19980316)75:6<819::aid-ijc1>3.0.co;2-y
PUBMED: 9506524
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 12 December 2016 -- Source: Scopus
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MSK Authors
  1. Ruby Delgado
    26 Delgado
  2. Farhang Rabbani
    84 Rabbani
  3. Irene Orlow
    247 Orlow
  4. Zuo-Feng Zhang
    102 Zhang
  5. Louis Lacombe
    19 Lacombe