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11. Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype.

Author

Kawai M, Obara K, Onodera T, Enomoto T, Ogasawara K, Tsuneyama H, Uchikawa M, and Inaba S

Subjects
Amino Acid Substitution, Asian People, Cell Adhesion Molecules blood, Female, Galactosyltransferases biosynthesis, Galactosyltransferases genetics, Globosides biosynthesis, Globosides metabolism, Humans, Japan, Kruppel-Like Transcription Factors blood, Lutheran Blood-Group System blood, Male, Cell Adhesion Molecules genetics, Kruppel-Like Transcription Factors genetics, Lutheran Blood-Group System genetics, Mutation, Missense, Phenotype
Abstract

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., (© 2016 AABB.)

Published
2017
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12. Individual nucleic amplification technology does not prevent all hepatitis B virus transmission by blood transfusion.

Author

Inaba S, Ito A, Miyata Y, Ishii H, Kajimoto S, Tanaka M, Maruta A, Saito S, Yugi H, Hino M, and Tadokoro K

Subjects
Bone Marrow Transplantation, False Negative Reactions, Hepatitis B blood, Hepatitis B etiology, Hepatitis B genetics, Hepatitis B prevention & control, Humans, Leukemia, Myeloid, Acute blood, Leukemia, Myeloid, Acute complications, Leukemia, Myeloid, Acute therapy, Male, Middle Aged, Retrospective Studies, Sensitivity and Specificity, Transfusion Reaction, Blood Donors, Blood Transfusion, DNA, Viral blood, Hepatitis B transmission, Hepatitis B virus genetics, Polymerase Chain Reaction methods
Published
2006
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