Article
Heterozygosity for two novel null alleles of the KEL gene causes the Kell-null phenotype in a Japanese woman.
British journal of haematology - 1 Apr 2002
Koda Yoshiro, Soejima Mikiko, Tsuneoka Makoto, Yasumoto Kiyoshi, Higashitani Takanori, Sagawa Kimitaka, Kimura Hiroshi
Abstract excerpt
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...
Topics
- Aged
- Aged, 80 and over
- Alleles
- Caenorhabditis elegans Proteins
- Codon, Nonsense
- DNA, Complementary
- Electrophoresis
- Female
- Frameshift Mutation
- Genotype
- Heterozygote