Molecular basis and clinical transfusion of a family with Bw subtype of ABO blood group system / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study a family with Bw subtype of ABO blood group system, and to review safety issues in relation with clinical transfusion.</p><p><b>METHODS</b>The molecular basis for the blood type was studied with serological assay, polymerase chain reaction-sequence specific primer (PCR-SSP) and DNA sequencing, TA clone and haplotype analysis in one blood donor whose ABO blood group were difficulty typed and her family. The bioinformatics analysis was carried out by biological analysis software to investigate the change of structure and function of enzymes influenced by the change amino acid. A retrospective survey was carried out to investigate what is the actual position that the donor blood was used in the clinical transfusion.</p><p><b>RESULTS</b>Three members from the family were found to have a Bw subtype. A substitution of nucleotide C by T at position 721 in exon 7 was discovered, which resulted in replacement of amino acid Arg to Trp. Review of clinical record suggested that there has been no significant abnormality association with past three blood transfusions.</p><p><b>CONCLUSION</b>A 721C>T mutation of the ABO gene probably underlies the Bw subtype. Further research is needed for understanding the clinical significance of this subtype in the blood transfusion.</p>

Mutational analysis for FUT1 gene in two cases with para-Bombay blood type / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study two cases of rare para-Bombay blood types Bmh and Amh in order to determine clinical strategies of blood transfusion.</p><p><b>METHODS</b>ABO blood type was determined with serological assays. The samples were also genotyped with polymerase chain reaction-sequence specific primer (PCR-SSP) for potential mutations in α-1,2-fucosyltransferase gene (FUT1). The results were verified with direct sequencing.</p><p><b>RESULTS</b>Two rare para-Bombay blood types, namely Bmh and Amh, were identified by serological method, with one being BO1 which contained a FUT1 allele 547-548delAG deletion (h1h1), and another being A205O2 which contained FUT1 allele a 547-548delAG deletion and a FUT1 allele 658C/T missense mutation (h1h3).</p><p><b>CONCLUSION</b>FUT1 allele 547-548delAG deletion and 658C>T missense mutation in part form the molecular basis of para-Bombay blood types. As Bmh and Amh contain anti-HI in sera, great attention should be paid to avoid adverse reaction of blood transfusion in clinics.</p>

Application of microcolumn gel immunoassay in screening the platelet antibody / 中国实验血液学杂志

The purpose of this study was to explore the clinical value of the platelet antibody screening and typing in platelets transfusion by using microcolumn gel immunoassay (MGIA). The platelets antigen-antibody reactions including the antibody screen and blood crossmatch were detected by MGIA. The results indicated that the detection of platelet antibody showed positive in 30 cases of aplastic anemia (AA), 11 cases of myelodysplastic syndrome (MDS), 24 out of 25 cases of leukemia and 1 out of cases of other diseases, while detection of platelet antibody showed negative in 20 normal volunteer donors. The number of platelet antibody crossmatch coincidence in 112 specimens of AA, 42 specimens of MDS and 95 specimens of leukemia were 45, 20 and 40, the coincidence rates were 40.18%, 47.62% and 42.11%. The mean corrected count increment (CCI) in 20 patients received platelet transfusion many times was 18.2 after crossmatch and 4.7 before crossmatch. It is concluded that the positive rate of platelet antibody screening is very high in patients with hematologic malignancies, the coincidence rate of platelet antibody crossmatch in 249 blood samples is between 40% and 48%, and the efficiency of using crossmatched platelets in clinic is enhanced significantly.

5-HT(3) receptors in the central amygdala mediate the modulation of thymus function in rats / 生理学报

The aim of the present study was to investigate the modulatory role of activated 5-HT(3) receptors in the central amygdala (CeA) on mitogen concanavalin A (ConA)-stimulated proliferative response of thymocytes in rats and the underlying neuroendocrine regulation circuits. 1-phenylbiguanide (PBG), a putative selective 5-HT(3) receptor agonist, was administered by intraperitoneal (i.p.), bilateral intracerebroventriclular (i.c.v.), and bilateral intracentral amygdala (i.c.a.) injection. In addition, thymocytes isolated from untreated rats were incubated with PBG (at a range of concentrations of 1x10(-8)-1x10(-5) mol/L) in vitro in the presence and absence of ConA, in order to investigate any direct effect of PBG on the proliferation in vitro. MTT method was applied to demonstrate the effect of PBG on the proliferative response of thymocytes. An immunohistochemical SABC assay was used to describe the expression profiles of c-Fos-positive cells in different brain regions including the CeA, hippocampus, cortex, hypothalamus and periaqueductal gray (PAG) at 1, 2, 4 and 8 h after bilateral single-administration of PBG by i.c.a. (1.0 microg/side). Results showed that PBG (1x10(-8)-1x10(-5) mol/L) had no significant influence on the proliferative responses of the isolated thymocytes in vitro, no matter ConA was present or not. The proliferation of thymocytes stimulated by ConA was not significantly changed when PBG was administered by i.p. (0.5 mg/kg per day, for consecutive 5 d), whereas it was remarkably enhanced after bilateral i.c.v. injection of PBG (10 microg/side per day, for consecutive 5 d). Similarly, when PBG was injected bilaterally by i.c.a. (1.0 microg/side per day, for 1 d or consecutive 3, 5 and 7 d), a significantly enhanced proliferation occurred on the 1st day and continued until reaching its peak on the 5th day before decreasing on the 7th day. All of the promoting effects of PBG on the ConA-stimulated proliferation of thymocytes were reversed by pretreatment with the 5-HT(3) receptor antagonist tropisetron (TRP) 5 min prior to the administration of PBG. Interestingly, compared to the treatment with normal saline or TRP + PBG, after a bilateral single-administration of PBG (1.0 microg/side) by i.c.a., the number of c-Fos-positive cells in different brain regions significantly increased at 1 h in the CeA, 1-2 h in the hippocampus, 1-2 h in the cortex, 4 h in the hypothalamus and 8 h in the PAG, respectively, with each maximum response at 1 h in the CeA, 2 h in the hippocampus and cortex, and 4 h in the hypothalamus. Subsequently, the number of cells expressing c-Fos gradually reduced to the minimum at 4 h in the CeA, and at 8 h in the hippocampus, cortex and hypothalamus. In conclusion, the 5-HT(3) receptors in the CeA of rats mediate the modulation of thymus function, at least partly, through the neuroendocrine circuit of the limbic system-cortex-hypothalamus-PAG.