The positive relationship between hematocrit and fetal hemoglobin percentages with total IGF-I, free/total IGF-I, and IGFBP-3 in patients with sickle cell anemia could show that the delayed growth of these patients may be linked to intrinsic factors of the disease, which also determine the low circulating concentrations of the various elements of the GH/IGF-I axis. It is reasonable to assume that decrease of total IGF-I concentrations in patients with CAR/CAR haplotype is secondary to the severity of the disease.

The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the present study was to perform ABO genotyping in patients with leukemia. Blood samples were collected from 108 Brazilian patients with chronic myeloid leukemia (N = 69), chronic lymphoid leukemia (N = 13), acute myeloid leukemia (N = 15), and acute lymphoid leukemia (N = 11). ABO genotyping was carried out using allele specific primer polymerase chain reaction followed by DNA sequencing. ABO*O01 was the most common allele found, followed by ABO*O22 and by ABO*A103. We identified 22 new ABO* variants in the coding region of the ABO gene in 25 individuals with leukemia (23.2%). The majority of ABO variants was detected in O alleles (15/60.0%). In 5 of 51 samples typed as blood group O (9.8%), we found non-deletional ABO*O alleles. Elucidation of the diversity of this gene in leukemia and in other diseases is important for the determination of the effect of changes in an amino ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 7 (1): 87-94 (2008) M.C.Z. Novaretti et al. acid residue on the specificity and activity of ABO glycosyltransferases and their function. In conclusion, this is the first report of a large number of patients with leukemia genotyped for ABO. The findings of this study indicate that there is a high level of recombinant activity in the ABO gene in leukemia patients, revealing new ABO variants.

The MYCN oncogene is amplified in 20% of childhood neuroblastoma and is associated independently with poor prognosis. Alteration of the p53 tumor supressor gene, in contrast, occurs infrequently in these tumors. In this report, we described a 3‐year‐old girl with stage IV neuroblastoma. Molecular analysis revealed both MYCN gene amplification and a point mutation of the p53 tumor supressor gene. To our knowledge, this is the first reported case of neuroblastoma with genetic alterations of both these genes. Med. Pediatr. Oncol. 29:206–207, 1997. © 1997 Wiley‐Liss, Inc.

We conclude that RT-PCR negativity for CK-19 expression at 3 months after the beginning of chemotherapy correlates with tumor response and, as treatment progresses, there is a significant trend for the occurrence of more negative RT-PCR results. Further studies are needed to confirm if this technique can be useful to assess response to chemotherapy in patients without measurable disease and if negativation of CK-19 expression while on chemotherapy is of prognostic significance.

Background: Human platelet antigens (HPA), mainly HPA-1 and HPA-2, play a significant role in alloimmune thrombocytopenic syndromes. Accurate HPA typing is important for the diagnosis and therapy of these patients. HPA gene frequencies vary in different populations. Thus, it is relevant to determine HPA genotype in distinct populations. The purpose of this study was to perform HPA-1,-2 genotyping in apheresis Brazilian blood donors. Material and Methods: Genomic DNA was prepared from whole blood of 57 unrelated repeated apheresis Brazilian blood donors using a commercial DNA isolation kit (Qiagen,. GmbH, Germany). Sequency specific PCR (SSP-PCR) was performed amplifying HPA-1A/HPA-1B and HPA-2A/2B genes using a pair of primers for each allele as described elsewhere (HPA-1A ACT TAC AGG CCC TGC CTC T; HPA-1B ACT TAC AGG CCC TGC CTC C; HPA-1AS AGC CGG AGT GCA ATC CTC TG; HPA-2A CCC CCA GGG CTC CTG AC; HPA-2B CCC CCA GGG CTC CTG AT and HPA-2AS GCC AGC GAC GAA AAT AGA GG). A fragment of the human growth hormone gene (HGH) served as internal positive control. PCR was carried out in a final volume of 20 μL, containing 0.2 mg of genomic DNA, 0.2 mM of each dNTP, 5% of glycerol, 1.5 units of platinum Taq polymerase (Invitrogen, Brazil) in the buffer supllied, 5.0 mM MgCl2 and 10.0 pmoles of each primer. Fragments of 196 bp derived from HPA-1A/1B mutation and of 241 bp for HPA-2A/2B were separated for 90 minutes at 102V using 0.5 μg.mL−1 ethidium bromide-stained 2.0% agarose gels and visualized in a UV light apparatus (Eagle Eye II, EUA). Results: The genotype frequencies presented 77.2% of HPA-1A/1A, 19.3% of HPA-1A/1B and 3.5% of HPA1B/1B; for HPA-2 the frequencies were 56.1% of HPA-2A/2A, 35.1% of HPA-2A/2B and 8.8% HPA-2B/2B. The gene frequencies in apheresis blood donors are 0.87 for HPA-1A, 0.13 for HPA-1B, 0.74 for HPA-2A and 0.26 for HPA-2B. Conclusion: In this studied population we found high gene frequency homozygous HPA-2B when compared with other data already published. (Castro et al, European Journal of Immunogenetics,1999;26:355–60).