Recently, a number of methods have been devised for detection of mutations in the field of molecular genetics. The LightCycler system has been used for rapid PCR, while simultaneously quantifying and analyzing the amplification results. We tried to apply the LightCycler system to detect APRT*J allele mutations in two families including two children with 2,8-dihydroxyadenine urolithiasis. The first patient was a 3-year-old girl who presented with left flank pain. The second patient was a 2-year-old girl who presented with complaints of sudden dysuria. The spectrophotometric analysis of the stone fragments of both patients revealed an absorption spectrum for 2,8-DHA. We used the LightCycler system to detect APRT*J mutation. The first patient was homozygous for APRT*J/APRT*J and the second patient was compound heterozygous for APRT*J/APRT*Q0. The genetic diagnosis of APRT deficiency using this system may be useful not only as a diagnostic test for infants with known 2,8-DHA, but also as a screening of infants with a suspicion of urolithiasis. We believed that the LightCycler system still is an important means of identifying APRT*J mutation.
Umbilical cord blood is being increasingly used as an alternative source of hematopoietic stem cells for allogeneic bone marrow transplantation. However, a major problem with cord blood transplantation is that it is associated with slow platelet engraftment compared to stem cell transplantation using bone marrow or cytokine-mobilized peripheral blood. Several studies have suggested that the slow platelet engraftment is due to low absolute numbers of megakaryocyte progenitor cells in umbilical cord blood.We examined whether the number or quality of infused colony-forming units megakaryocyte (CFU-Mk) were related to the speed of platelet recovery of 21 patients who received cord blood transplantation with marrow-ablative chemotherapy. The proportion of small Mk colonies per unit was inversely correlated with the time to platelet recovery (p=0.034, r=-0.67), whereas no such correlation was seen with the number of infused CFU-Mk per kg. These results indicate that the proportion of mature megakaryocyte progenitor cells per unit reflects the hematopoietic potential of a cord blood graft, and may correlate with the speed of platelet recovery after transplantation.
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