Donor lymphocyte infusions for the treatment of minimal residual disease in acute leukemia

Helsinki. Genomic DNA was isolated from whole blood, and exon 10 was amplified in standard polymerase chain reaction (PCR) conditions. The primer sequences used for PCR were the same as those used by Krijanovski et al. 1 DNA sequences were determined on an ABI 3130 1 Genetic Analyzer (Applied Biosystems, Foster City, CA). A single cytidine nucleotide insertion was found at nucleotide position 1217 (Figure There were 4 consecutive cytidine nucleotides before the insertion of an extra cytidine. This insertion resulted in a frameshift in codon 406, and a premature stop signal (TGA) was generated at codon 415. We next examined the proband's family members and found that her parents and brother were heterozygous for this mutation (Figure These results indicate that a cytidine nucleotide insertion found in the proband is responsible for the isolated HK deficiency inherited in this family.