title: Heterozygosity for two novel null alleles of the KEL gene causes the Kell-null phenotype in a Japanese woman.
abstract: The Kell-null (Ko) phenotype is rare and it does not express the Kell antigens on erythrocyte membranes. Recently, several distinct missense and nonsense base substitutions in the coding region and the donor splice site of intron 3 were identified in the KEL gene in individuals with the Ko phenotype. We analysed both genomic DNA and cDNA sequences of the KEL gene in a Japanese woman with the Ko phenotype. She was found to be heterozygous for two novel null KEL alleles. One allele contained an A to G substitution in intron 5 that changes the 3'-splice site of intron 5 from AAG to AGG, resulting in a reading frameshift by a single guanine insertion in KEL mRNA, and the other allele contained a single G to A substitution in exon 12 (codon 459) creating a termination codon. Neither mutation was found in 114 randomly selected Japanese individuals. The results suggested that the Ko blood group phenotype might be owing to several distinct non-functional alleles without any prevalent allele.
authors.affiliation: Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Yasumoto Hospital, Mizuma, Japan.
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Koda
authors.forename: Mikiko
authors.initials: M
authors.lastname: Soejima
authors.forename: Makoto
authors.initials: M
authors.lastname: Tsuneoka
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Yasumoto
authors.forename: Takanori
authors.initials: T
authors.lastname: Higashitani
authors.forename: Kimitaka
authors.initials: K
authors.lastname: Sagawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kimura
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D029742:Caenorhabditis elegans Proteins; D018389:Codon, Nonsense; D018076:DNA, Complementary / Q000235:genetics; D004586:Electrophoresis; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D029742:Caenorhabditis elegans Proteins; D018389:Codon, Nonsense; D018076:DNA, Complementary; D007626:Kell Blood-Group System; D011506:Proteins; C121715:kel-1 protein, C elegans