Another example of a KEL1 variant red cell phenotype due to a threonine to serine change at position 193 of Kell glycoprotein.

ABSTRACT: BACKGROUND:Healthy subjects whose red blood cells (RBCs) react variably with anti-KEL1, but strongly express other Kell blood group antigens, have been described and called KEL1 variant. A 53-year-old Caucasian blood donor was identified whose RBCs reacted with three monoclonal and two polyclonal anti-KEL1 and did not react with two monoclonal and one polyclonal anti-KEL1. The molecular basis of this phenotype was investigated. STUDY DESIGN AND METHODS:Genomic white blood cell DNA was analyzed for KEL*1/2 genotype by utilizing sequence-specific primers and polymerase chain reaction. In addition, the region of the KEL*1/2 polymorphism at position 578 of KEL was analyzed by DNA sequencing. RESULTS:Genotyping of the donor with the KEL1 variant phenotype revealed that he was KEL*2 homozygous. Sequencing revealed one typical KEL*2 allele and a KEL*2 allele with an adenosine (A) to thymidine (T) substitution at position 577 that predicted a threonine to serine change at position 193. CONCLUSION:It is not known if this phenotype is clinically relevant, but for at least some genotyping applications probes that identify this polymorphism should be used and anti-KEL1 should be tested for reactivity to this allele.

SUBMITTER: Lee-Stroka H 

PROVIDER: S-EPMC2666546 | biostudies-literature | 2008 May

REPOSITORIES: biostudies-literature