Tissue AntigensVolume 24, Issue 1 p. 70-72 C4 haplotypes with duplications at the C4A or C4B loci: frequency and associations with BF, C2, and HLA-A, B, C, DR alleles B. URING-LAMBERT, Corresponding Author B. URING-LAMBERT Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceAddress: Dr. B. Uring-Lambert Centre de Transfusion Sanguine 10, rue Spielmann F-67085 Strassbourg Cedex FranceSearch for more papers by this authorJ. GOETZ, J. GOETZ Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceSearch for more papers by this authorM. M. TONGIO, M. M. TONGIO Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceSearch for more papers by this authorS. MAYER, S. MAYER Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceSearch for more papers by this authorG. HAUPTMANN, G. HAUPTMANN Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceSearch for more papers by this author B. URING-LAMBERT, Corresponding Author B. URING-LAMBERT Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceAddress: Dr. B. Uring-Lambert Centre de Transfusion Sanguine 10, rue Spielmann F-67085 Strassbourg Cedex FranceSearch for more papers by this authorJ. GOETZ, J. GOETZ Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceSearch for more papers by this authorM. M. TONGIO, M. M. TONGIO Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceSearch for more papers by this authorS. MAYER, S. MAYER Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceSearch for more papers by this authorG. HAUPTMANN, G. HAUPTMANN Institut d'Hématologie and Centre de Transfusion Sanguine, Strasbourg, FranceSearch for more papers by this author First published: July 1984 https://doi.org/10.1111/j.1399-0039.1984.tb00403.xCitations: 13AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume24, Issue1July 1984Pages 70-72 RelatedInformation

Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal atrophy of the optic nerve with an onset within the first two decades of life1,2. The predominant locus for this disorder (OPA1; MIM 165500) has been mapped to a 1.4-cM interval on chromosome 3q28–q29 flanked by markers D3S3669 and D3S3562 (ref. 3). We established a PAC contig covering the entire OPA1 candidate region of approximately 1 Mb and a sequence skimming approach allowed us to identify a gene encoding a polypeptide of 960 amino acids with homology to dynamin-related GTPases. The gene comprises 28 coding exons and spans more than 40 kb of genomic sequence. Upon sequence analysis, we identified mutations in seven independent families with ADOA. The mutations include missense and nonsense alterations, deletions and insertions, which all segregate with the disease in these families. Because most mutations probably represent null alleles, dominant inheritance of the disease may result from haploinsufficiency of OPA1. OPA1 is widely expressed and is most abundant in the retina. The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity.

The selective 5-HT1A receptor ligand ipsapirone (IPS) induces hypothermia in humans. To explore 5-HT1A receptor-mediated thermoregulation in depression, 24 subjects (12 patients with unipolar depression and 12 individually matched controls) received 0.3 mg/kg IPS or placebo in random order. Compared with controls, the depressed patients exhibited significantly attenuated hypothermic responses to IPS. The impaired hypothermic response following 5-HT1A receptor activation in unipolar depression could have resulted from subsensitivity of the (presynaptic) 5-HT1A receptor and/or related effector mechanisms, thus supporting the hypothesis that altered serotonergic activity may be present in affective disorders. Future studies of the hypothermic response to direct-acting 5-HT1A ligands, such as IPS should facilitate the assessment of 5-HT receptor function in various affective disorders and its involvement in psychotropic drug effects.

The selective 5-HT1A receptor ligand ipsapirone (IPS) induces corticotropin (ACTH) and cortisol secretion in humans. To explore 5-HT1A receptor-mediated hypothalamic-pituitary-adrenal (HPA) system activation in depression, 24 subjects (12 patients with unipolar depression and 12 individually matched controls) were given 0.3 mg/kg IPS or placebo in random order. Compared with controls, the depressed patients exhibited significantly decreased ACTH and cortisol responses to IPS in association with increased basal cortisol secretion. The impaired HPA response following 5-HT1A receptor challenge in unipolar depression could have resulted from glucocorticoid-dependent subsensitivity of the (post-synaptic) 5-HT1A receptor itself and/or from a defective postreceptor signaling pathway [inhibitory guanine nucleotide-binding protein (Gi)-adenylate cyclase complex function], thus supporting the hypothesis that a disintegrated 5-HT and HPA system interaction may be present in depression. Future studies of the HPA response to direct-acting 5-HT1A ligands, such as IPS, should facilitate the assessment of 5-HT/HPA system integrity in various affective disorders and its involvement in psychotropic drug effects.

Class II antigen expression on leukemic cells has been mainly studied using monoclonal antibodies (Mabs). On the other hand, class II polymorphism has been mainly studied using alloantisera. The present study shows that the reactivity of leukemic cells from different lineages with class II Mabs was not always the same as that obtained with alloantisera and that the reactivity varied depending on the leukemic cell-type studied.

DNA was digested with the requested 12 enzymes and hybridized with the DPα and DPβ probes given to the participating laboratories. Only clusters correlating with the PLT-defined DP specificities were retained from the Workshop computer analysis.

Fifty couples and their children with Down syndrome (D.S.) were typed for HLA-A and HLA-B antigens and compared to 50 control families and 464 blood donors. The parental origin of the extra chromosome 21 was determined by cytogenetic methods. All individuals were caucasians and there was no history of consanguinity. No excessive HLA sharing was present in D.S. parents. The mothers of D.S. shared no more HLA antigens with their D.S. children than the control mothers with their normal children (14% vs. 18%). Thirteen of the fifty pairs (26%) (parent in whom the nondisjunction occurred and D.S. child) shared three HLA antigens at the A and/or B locus. This was not significantly higher than the proportion in the control group (12/50 or 24%). These data suggest that it is not the sharing of HLA-A and HLA-B antigens between the parents or between the parent who was the origin of the nondisjunction and the D.S. child that is related either to the occurrence of trisomy 21 zygotes or to prenatal survival of affected embryos and fetuses.

Cyclic nucleotide phosphodiesterase (PDE) activities were studied in peripheral blood monocyte-depleted lymphocytes and enriched T-lymphocyte suspensions from thirteen patients with previously untreated Hodgkin's disease (HD) and fourteen age and sex matched healthy volunteers. Monocyte-depleted lymphocytes from HD patients showed PDE-activities which were two times higher than in their normal counterpart cells. The mean cAMP-PDE activity present in enriched HD T-lymphocyte suspensions was four times higher than in control T-lymphocytes, and the mean cGMP-PDE associated with HD T-lymphocytes was three times higher than in the controls. The hydrolytic activities present in both monocyte-depleted and T-lymphocyte enriched cells suspensions remained unchanged in absence or in the presence of calmodulin and calcium. Since depressed cAMP and cGMP resting levels have been observed in HD lymphocytes and lymphocyte subpopulations, our results suggest that the elevated PDE activities are, at least in part, responsible for the alterations in lymphocyte cyclic nucleotide levels.

Chez 12 malades sur 21 activite cytotoxique presente a +15°C dans le serum. Activite dirigee contre les allocellules, lymphocytes et monocytes; dans 6 cas contre les autocellules. Dans le LCR, activite constante, tres forte, contre les allo et autocellules chez tous les malades neurologiques etudies atteints ou non de SEP

Un suivi transfusionnel très rigoureux chez des patients polytransfusés avec des unités de sang déleucocyté nous a permis de constater que de telles préparations pouvaient restimuler des anticorps anti-HLA antérieurement présents chez un receveur et qui ont secondairement disparu, mais surtout pouvaient faire apparaître des anticorps chez des sujets non immunisés par le passé : la spécificité de ces anticorps correspondait à un ou plusieurs des antigènes présents chez le donneur de l'unité transfusée.

The haplotypic frequencies of the fourth component of complement (C4) and factor B (Bf) have been determined in 44 Alsatian type 1 diabetics. An increased frequency of the rare allele Bf F1 (9.1% vs 1.5%) and of the silent alleles of C4 (C4 AQO: 21.6% vers 15.5% -C4 BQO: 29.6% vs 16.0%) was observed in diabetics in comparison to the general population of the same geographic area. A complete HLA haplotype determination has been obtained in 24 type 1 French diabetics. Three haplotypes were associated with the diabetic susceptibility: HLA-A30 CW5 B18 BfF1 C4A3BQO DR3 (18.75% vs 0.86%), HLA-A1 CW7 B8 BfS C4AQOB1 DR3 (15.58% vs 4.17%), HLA-A2 CW3 BW62 BfS C4A3B3 DR4 (6.25% vs 0.45%). The authors suggest that the silent alleles of C4 could modulate the expression of the diabetic susceptibility genes by lowering of the serum C4 hemolytic activity.

We have followed the evolution of leucocyte antibodies in patients receiving multiple blood transfusions of leucocyte-poor blood. The number of leucocytes present in one unit of transfused blood was always less than 1 X 10(8). We observed that such preparations were able to re-stimulate antibodies which had disappeared, but especially they were able to provoke a first immunisation in some patients never immunized in the past. The specificities of these antibodies corresponded to one or several antigens present in the donor of the transfused unit. This study shows that leucocyte immunisation cannot always be avoided in spite of the selection of blood products containing very few white cells.