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Racial variation in the O‐acetylation phenotype of human colonic mucosa
Author(s) -
Campbell Fiona,
Appleton Mark A. C.,
Fuller Clare E.,
Greeff Michael P.,
Hallgrimsson Jonas,
Katoh Ryohei,
Ng O. L. Irene,
Satir Ali,
Williams Geraint T.,
Williams E. Dillwyn
Publication year - 1994
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.1711740305
Subject(s) - phenotype , biology , staining , gene , acetylation , polymorphism (computer science) , genetics , genotype
O ‐acetylated and non‐ O ‐acetylated sialoglycoproteins can be distinguished by the mPAS (mild periodic acid‐Schiff) histochemical technique. Individual adults show one of three different patterns of staining of large intestinal mucosa: uniformly mPAS‐positive, uniformly mPAS‐negative, or mPAS‐negative with scattered mPAS‐positive crypts. To test our hypothesis that these variations are the results of a single autosomal gene ( oat ) polymorphism, we have studied the frequency of the three patterns of staining in a total of 435 adult colon specimens from six geographically separate populations: British, South African blacks, Icelanders, Japanese, Hong Kong Chinese, and Bahrainis. The distribution of the three types of staining fell into two groups. In Japanese and Chinese, uniformly mPAS‐positive cases were much more frequent than uniformly mPAS‐negative cases; this distribution differed significantly ( X 2 , P <0·001) from that in non‐Sino‐Japanese, where the uniformly mPAS‐positive phenotype was much less frequently found than the uniformly mPAS‐negative phenotype. In neither of the groups did the frequency of the three phenotypes differ significantly from that predicted for a single gene polymorphism by the Hardy‐Weinberg law. The variation in staining patterns between populations is consistent with variation in frequency of a single polymorphic autosomal gene ( oat ) controlling O ‐acetylation of sialic acid, probably by an O ‐acetyl transferase enzyme. Loss of function mutation in the high acetylator gene ( oat a ) in a colonic crypt stem cell in heterozygous individuals would account for the scattered discordant crypts. Gene frequencies for a variety of enzymes differ between the Sino‐Japanese and non‐Sino‐Japanese races. This newly described gene polymorphism may be related to differential susceptibility to organisms binding specifically to either O ‐acetylated or non‐ O ‐acetylated sialoglycoproteins, or to differential enteric colonization by bacterial flora that vary in their relative secretion of sialidases and sialate O ‐acetyl esterase.