Satoshi Saito

Serologic analysis of three cases of neonatal alloimmune thrombocytopenia associated with HLA antibodies

BACKGROUND: Neonatal alloimmune thrombocytopenia (NAIT) is caused when maternal alloantibodies react with paternally inherited antigens present on the fetal PLTs, a reaction mainly due to antibodies against human PLT antigens. Cases in which NAIT has been caused by HLA antibodies are relatively rare. In this study, three cases of NAIT associated with HLA antibodies that occurred in a 1‐year period are reported.

Platelet transfusion refractoriness caused by a mismatch in HLA‐C antigens

BACKGROUND: HLA‐C antigens have been thought to be of little significance in determining the efficacy of platelet transfusions. However, six alloimmunized patients were encountered who were refractory to platelet transfusions because of anti‐HLA‐Cw3, ‐Cw7, or ‐Cw8.

Investigation of DNA extraction from hair shafts

Abstract Human hair shafts can be important forensic evidence for identification, but DNA typing, even of mitochondrial DNA (mtDNA), presented certain difficulties. We describe three DNA extraction methods from hair shafts, such as the phenol/chloroform method, NaI treatment method, and silica-beads method. In order to make an investigation of mtDNA amplification rate and efficiency, the amplifications of the mtDNA control region (D-loop) HV1A (15997–16262) used FAM-labeled forward primer. As a result of the extractions from different lengths of fresh hair shafts and the variations of the template volume, fluorescent peak heights as DNA recovery by three methods were sufficiently high. In the degraded sample, a high fluorescent peak height enough to sequence mtDNA could be obtained from our NaI method and silica-beads method.

A possible role for the production of multiple HLA antibodies in fatal platelet transfusion refractoriness after peripheral blood progenitor cell transplantation from the mother in a patient with relapsed leukemia

BACKGROUND: There has been controversy over whether HLA alloimmunization is a risk factor for platelet (PLT) transfusion refractoriness (PTR) in hematopoietic peripheral blood progenitor cell transplantation (HPBPCT).

Molecular genetic analysis of the Am phenotype of the ABO blood group system.

Background and Objectives Many sequences of variants in the ABO blood group system have been analysed, but genetic information is not available on the rare Am phenotype blood group. We isolated the Am phenotype in one family and performed molecular analysis on this allele.

Multiplex PCR using newly designed primers for very short fragments of TH01, TPOX, CSF1PO, and vWA loci

We performed multiplex PCR for the TH01, TPOX, CSF1PO, and vWA loci using newly designed pairs of primers that yield smaller fragments than previously reported [Int. J. Leg. Med. 114 (2001) 285; Am. J. Hum. Genet. 55 (1994) 175; Int. J. Leg. Med. 106 (1994) 183.] [1–3]. This system required genomic DNA in a range of 50 pg–2 ng, and proved to be sensitive as a typing method. Furthermore, it was possible to determine the allele types even from 18-year-old bloodstains.

Investigation of ACTBP2 mutations in the Japanese population

In the investigation of ACTBP2 (human beta-actin related pseudogene H-beat-Ac-psi-2) mutation in the Japanese population, 230 meioses were analyzed, and two cases of paternal mutations were observed. Paternity confirmation analyses were carried out using seventeen genetic marker systems including erythrocyte antigens, HLA types, D1S80, and nine STR loci contained in the AmpFlSTR Profiler Kit. Excluding ACTBP2, the paternity probabilities for the two cases were each calculated to be over 99.99%. Genotyping of the ACTBP2 locus was performed using the fluorescence detection method under denaturing conditions on an ABI PRISM 310 Genetic Analyzer. After sequencing analysis using the BigDye terminator method, the paternally originated alleles of the two children were found in one case to show one repeat insertion and in the other case one repeat deletion as compared with each father. Although the number of meioses observed in this study is limited, it appears that ACTBP2 mutations are not rare events in the Japanese population.