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Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype
Author(s) -
Kawai Miho,
Obara Kumi,
Onodera Takayuki,
Enomoto Takayuki,
Ogasawara Kenichi,
Tsuneyama Hatsue,
Uchikawa Makoto,
Inaba Shoichi
Publication year - 2017
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.13990
Subject(s) - phenotype , gene , genetics , mutation , biology , medicine
BACKGROUND In(Lu) is characterized by a reduced expression of antigens in the Lutheran blood group system as well as other blood group antigens. Mutations of the erythroid transcription factor, KLF1, have been reported to cause the In(Lu) phenotype, and we investigated Japanese In(Lu) to estimate the prevalence of the phenotype and KLF1 polymorphism. STUDY DESIGN AND METHODS Blood samples were screened by monoclonal anti‐CD44 and the In(Lu) phenotype was confirmed by tube tests including adsorption and elution tests using anti‐Lu a and anti‐Lu b . KLF1 , LU , and A4GALT genes were analyzed by polymerase chain reaction and sequencing. RESULTS We identified 100 of 481,322 blood donors (0.02%), and the previously characterized 20 donors, who had the In(Lu) phenotype with the LUB/LUB genotype. A total of 100 of the 120 In(Lu) individuals had mutant KLF1 alleles, and we identified 13 known and 21 novel alleles. The mutant KLF1 alleles with c.947G>A (p.Cys316Tyr), c.862A>G (p.Lys288Glu), or c.968C>G (p.Ser323Trp) were major in the In(Lu) individuals. The P1 antigen of 29 In(Lu) (two P 1 /P 1 , 27 P 1 /P 2 ) showed significantly weakened expression by hemagglutination. CONCLUSIONS The prevalence of the In(Lu) phenotype in the Japanese population was 0.02%, and we identified 13 known and 21 novel KLF1 alleles. The KLF1 mutations cause the reduced expression of the P1 antigen.