Biomedical subjects
Publications and source records attributed to J Poole.
The Lutheran blood group system, comprised of 18 antigens with four pairs of alleles at closely linked loci, is complex. This article outlines current knowledge of the Lutheran system with special reference to recent serologic, immunochemical and clinical findings.
Two individuals with the rare Ge:-2-3,4 phenotype (Gerbich type of Gerbich negative) were identified in a family of Polynesian descent who reside in the Cook Islands. In initial serologic tests, all other family members typed as Ge-positive, and heterozygous individuals could not be identified. Further studies on blood samples from seven members of this Polynesian family by immunoblotting and hemagglutination tests on trypsin-treated red blood cells showed that normal glycophorin C and the product of the Gerbich allele were inherited in an autosomal dominant manner.
A 38-year-old Russian woman (KZ) has been identified as the fourth proposita with the Inab blood group phenotype. Like the first two propositi, she has a chronic intestinal disorder and, as shown for the third proposita, her Inab phenotype is demonstrably inherited. KZ's serum contained anti-IFC, which reacted with a red blood cell (RBC) membrane component with an Mr of 70,000, which is decay accelerating factor (DAF). Her RBCs lacked all Cromer-related blood group antigens and DAF. Her RBCs were no more susceptible than normal control RBCs to lysis in acid lysis or in rabbit or human antibody-initiated complement lysis tests. Northern blots of total RNA isolated from KZ's Epstein-Barr virus-transformed lymphoblasts showed a marked reduction of DAF mRNA when compared with normal. Polymerase chain reaction (PCR) amplification of cDNA confirmed this reduced level of DAF mRNA. Sequencing of the PCR product showed a 44-nucleotide deletion in the mRNA close to the short consensus repeats IIIa/IIIb intron/exon boundary. This deletion results in a change in the reading frame that places a termination codon six amino acids after the deletion. The putative translation product would lack a glycosyl phosphatidyl-inositol linkage site and, therefore, would not be membrane-bound in the RBC.
The incidence of the MiIII phenotype among Chinese blood donors in Hong Kong was found to be 6.28%. Eleven individuals apparently homozygous for the MiIII gene were detected by immunoblotting with monoclonal antibodies R1.3 and R18. R1.3 detects an identical epitope on both glycophorins A and B and R18 detects a different epitope on glycophorin A. Immunoblotting with R1.3 showed an absence of bands corresponding to normal glycophorin B. Immunoblotting with R18 showed an absence of a 58 K band, which corresponds to a heterodimer of normal glycophorin B complexing with the MiIII component, found in MiIII heterozygotes. In two families with apparent MiIII homozygous individuals, both parents of the propositi had the MiIII phenotype which implies normal autosomal inheritance of the MiIII gene. In another family, only one parent had the MiIII phenotype and the presence of an Su gene is postulated to explain the immunochemical and serological findings.
A 43-year-old Arab woman was found to be negative for the high incidence AnWj antigen and her serum contained anti-AnWj. Two of her seven siblings were also AnWj-negative, which provides evidence for the first time that the AnWj-negative phenotype may be an inherited character. Blood groups of the family, in which the parents of the proposita are consanguineous, show that AnWj is not part of the ABO, Rh, MNSs, Kell, Duffy, Kidd, Xg and, notably, Lutheran blood group systems and neither is it X or Y linked.
Studies were performed to characterize phosphorus-31 magnetic resonance (MR) spectra obtained from 10 superficial human tumors outside the brain and to determine whether P-31 MR spectroscopy could allow detection of a response to therapy before a change in tumor size was measured. The ratio of phosphomonoester to adenosine triphosphate peak intensities (PME/ATP) was unusually large in all tumors studied. The average PME/ATP in lymphomas (1.8 +/- 0.5) was greater than in nonlymphoma cancers (1.1 +/- 0.15). The average PME/ATP for all tumors studied (1.4 +/- 0.5) was much greater than that of underlying skeletal muscle (0.23 +/- .09). Eight of the tumors were studied before and after therapy. Responders were distinguished from nonresponders on the basis of changes in tumor size. PME/ATP decreased during therapy in three lymphomas that responded to therapy. In an adenocarcinoma and Ewing sarcoma that did not respond to therapy, PME/ATP increased. PME/ATP remained constant in two squamous cell carcinomas that responded to therapy and decreased in one squamous cell carcinoma that decreased in size by 40% but was classified as a nonresponder. Changes in PME/ATP did not always parallel changes in tumor size during therapy. In two patients, a decrease in PME/ATP preceded a decrease in tumor size. In four patients, PME/ATP increased transiently during periods when tumor size remained constant.
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A multilaboratory investigation during several years has identified a low incidence antigen JAL on the red cells of 7 propositi. JAL appears to be associated with two unusual Rh complexes, one of which produces a depressed C antigen and the other a depressed c antigen. Family studies strongly suggest that the JAL antigen is encoded by the RH locus. Anti-JAL has been implicated in haemolytic disease of the newborn and is thus considered to be a clinically significant antibody.
The JAL antigen was found to have an overall frequency of 0.004% in the Swiss population and 0.06% in French-speaking Swiss. Family studies of 5 JAL+ individuals have shown that the JAL antigen is not part of the ABO, MNSs, Fy, Jk and Co blood group systems, or the Se system, nor is it X- or Y-linked. JAL is encoded by the RH locus or by a very closely linked locus. The number RH48 (4.48) has been assigned for JAL by the International Society of Blood Transfusion Working Party on Terminology for Red Cell Surface Antigens.
An 85-year-old male with cardiac failure secondary to anaemia had an apparent anti-Ge2 (Ge = Gerbich) in his serum which did not agglutinate his own red cells even though they were Ge-positive in tests with alloanti-Ge. The direct antiglobulin test was negative; however, an antibody with apparent anti-Ge2 specificity was eluted from his red cells. The patient's autoantibody was shown in immunoblotting experiments to react with an antigenic determinant on beta-sialoglycoprotein. This case illustrates that an autoanti-Ge can masquerade as an alloantibody, thereby complicating antibody identification, and implies that the immunochemical specificity of autoanti-Ge2 is different from that of alloanti-Ge2.
Haemophilus influenzae type b expressing fimbriae showed no adherence to buccal epithelial cells and no agglutination of erythrocytes from three AnWj-negative siblings in one family. Hemagglutination of erythrocytes from 13 AnWj-positive members of the same family and from 24 controls was normal, and H. influenzae adhered well to buccal epithelial cells from them. These data indicate that the expression of epithelial and erythrocyte receptors for H. influenzae is inherited concomitantly. Combined with previous data (L. van Alphen, J. Poole, L. Geelen, and H. Zanen, Infect. Immun. 55:2355-2358, 1987), the results show that the receptor molecules on the surfaces of the epithelial cell and the erythrocyte are different but that the binding sites for the fimbriae of H. influenzae are similar.
A simple scheme is described for the classification of Miltenberger cell classes I to VI, which is consistent with the serologic definition of the determinants. The scheme is based on the reaction patterns obtained by immunoblotting the normal and abnormal sialoglycoproteins (SGPs) found in these cells with several murine monoclonal antibodies that recognize different epitopes on alpha-SGP (Glycophorin A). The abnormal alpha found in MiI and MiII cells is easily identified with these antibodies, as is the abnormal alpha-delta SGP found in MiV cells. Certain alpha-SGP antibodies recognize epitopes on the abnormal SGPs found in MiIII, MiIV, and MiVI cells, although the mode of inheritance of these abnormal SGPs suggests that they are related to delta-SGP (Glycophorin B). Antibody R18 reacts with the abnormal SGP of MiIII cells but not that of MiIV or MiVI cells, whereas antibody BRIC 119 reacts with MiIII, MiIV, and MiVI cells. None of the abnormal components in these three cell classes react with antibody R10 or with an antibody (BRIC 163) that recognizes an epitope on the cytoplasmic portion of alpha-SGP. The immunostaining of membranes from persons heterozygous for the MiVII and MiVIII classes revealed patterns identical to those of normal red cell membranes. However, antibody R18 did not react with any of the SGP components of homozygous MiVII cells.
Anti-Au, the first example of the antithetical antibody to anti-Au, was identified in the serum of a blood donor who had been transfused 16 years previously. Au has a gene frequency of 0.4326 in an American black population and 0.2994 in a southern English donor population. The expression of Au is suppressed by In(Lu). XS2 also suppresses Auberger antigen expression.
Two previously unpublished low-incidence antigens, Jones and Hol., are identical. The antigen is a dominant, autosomally inherited character that segregates independently from the loci for the ABO, MNS, Duffy and Yt blood group systems and is different from previously published infrequent antigens. The antigen is apparently unaffected by enzyme treatment and is well developed on red cells of neonates. The antibody reacts best by indirect antiglobulin testing, is IgG and has caused haemolytic disease of the newborn. This private blood group antigen, named Jones, has been assigned the ISBT number 700047.
A 61-year-old, nontransfused, Caucasian male was found to have a positive direct antiglobulin test (DAT) and an autoantibody in his serum prior to total hip replacement. Autoabsorption with the patient's ZZAP-treated red cells failed to absorb the autoantibody, giving a clue to its possible specificity, which was subsequently found to be Kell-system related. In addition, his red cells were found to have a slightly weakened expression of Kell system antigens. The patient was fit and healthy with normal hematological indices at the time of the operation. One year the hemlogical findings remained the same despite the persistence of the autoantibody and a positive DAT. This suggested that the autoantibody was benign, which was supported by a negative in vitro mactophage assay.
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BOW is a 'new' low-frequency red-cell antigen, detected in 2 unrelated English blood donors, that is sensitive to alpha-chymotrypsin and pronase. Anti-BOW is present in many polyspecific reagents used to define low-frequency antigens. Red-cell groups of the proposita, R.B., and her family show that the BOW blood group segregates independently from the ABO, Rh, MNSs, P1 and Kell blood group systems.
Three examples of an antibody were found to be detecting a red cell polymorphism probably identical to MER2. The antibodies were made by Jews originating from India and living in Israel. Two of them were sibs and the third was unrelated. All 3 had kidney disease requiring renal dialysis and regular blood transfusion. In 2 cases the antibodies were detected before dialysis was started and before the patients had been transfused. The human antibodies reacted with red cells of 90% of Israeli blood donors tested. In tests on selected blood donors, 82 English and 56 Israeli, one of the human antibodies gave almost identical reactions to those given by monoclonal anti-MER2. Anomalous reactions were probably due to anti-Bga. Two of the human antibodies completely blocked, and one partially blocked, the reaction of monoclonal anti-MER2 with MER2+ red cells.