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Three‐base deletion and one‐base insertion of the α(1,4)galactosyltransferase gene responsible for the p phenotype
Author(s) -
Koda Yoshiro,
Soejima Mikiko,
Sato Hiroyuki,
Maeda Yoshiaki,
Kimura Hiroshi
Publication year - 2002
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1046/j.1537-2995.2002.00014.x
Subject(s) - galactosyltransferase , allele , gene , phenotype , cytosine , biology , genetics , microbiology and biotechnology , locus (genetics) , coding region , biochemistry , enzyme
BACKGROUND: Recently, an α(1,4)galactosyltransferase gene that is responsible for synthesis of P k (Gb3) was isolated. The p individuals who did not express the P k , P, and P 1 antigens on RBC membranes were shown to lack the P k (Gb3) synthase activity because of multiple distinct mutations in the α(1,4)galactosyltransferase gene. STUDY DESIGN AND METHODS: DNA sequences of the P k (Gb3) synthase gene in three Japanese individuals with the p phenotype were analyzed. RESULTS: One individual was found to be homozygous for an allele containing a three‐base deletion of CTTCTTC to CTTC from bases 237 through 243 in the coding region. The other two individuals were found to be homozygous for an allele containing a single cytosine insertion in a cytosine repeat at positions 1026 through 1029, resulting in a reading frame shift. CONCLUSION: The p blood group phenotype is due to several distinct nonfunctional alleles without any predominant allele.