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

Autor:	Miho, Kawai, Kumi, Obara, Takayuki, Onodera, Takayuki, Enomoto, Kenichi, Ogasawara, Hatsue, Tsuneyama, Makoto, Uchikawa, Shoichi, Inaba
Rok vydání:	2016
Předmět:	Male Phenotype Amino Acid Substitution Asian People Globosides Japan Kruppel-Like Transcription Factors Mutation Missense Humans Female Galactosyltransferases Cell Adhesion Molecules Lutheran Blood-Group System
Zdroj:	Transfusion. 57(4)
ISSN:	1537-2995
Popis:	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.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-LuWe 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.947GA (p.Cys316Tyr), c.862AG (p.Lys288Glu), or c.968CG (p.Ser323Trp) were major in the In(Lu) individuals. The P1 antigen of 29 In(Lu) (two PThe 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::f4daf8248a88826b9c0cf54cb5ded1c3 https://pubmed.ncbi.nlm.nih.gov/28194794 Zobrazit plný text záznamu Plný text