Single-base substitutions characterize the KEL3, KEL21, KEL17, and KEL10 genes. The allelic relationship of KEL3, KEL4, and KEL21 was confirmed because the mutations occur in the same codon, expressing different amino acids. PCR-based restriction fragment length polymorphisms can be used to distinguish genotypes.
The high-incidence antigens of the Kell blood group system are characterized by point mutations leading to amino acid substitutions. The KEL:-18 phenotype could be due to either of two point mutations in the same codon replacing arginine with tryptophan or glutamine. TOU was confirmed as a Kell system antigen, and the inheritance of the mutation was demonstrated.
The locus coding for the A subunit of coagulation factor XIII (F13A) is strongly linked with the major histocompatibility complex on chromosome 6. The maximum lod score was obtained at recombination fractions of 0.12 in males and 0.40 in females. The data suggest that the F13A locus is distal to HLA, probably within the 6p22 region.
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