[The importance of dispensary care in diabetes mellitus].
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Ambulatory Care↗
Biomedical subjects
E Solomon
Publications and source records attributed to E Solomon.
Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1.
Prolyl 4-hydroxylase, an alpha 2 beta 2 tetramer, catalyzes the formation of 4-hydroxyproline in collagens by the hydroxylation of proline residues in peptide linkages and plays a crucial role in the synthesis of these proteins. The gene for the beta-subunit of prolyl 4-hydroxylase has recently been mapped to the long arm of human chromosome 17, at band 17q25. We report here chromosomal localization of the gene for the catalytically and regulatorily important alpha-subunit of human prolyl 4-hydroxylase. Analysis of 24 rodent x human cell hybrids by Southern blotting with cDNA probes for the human alpha-subunit indicated complete cosegregation of the gene for the alpha-subunit with human chromosome 10. A cell hybrid containing only part of chromosome 10 mapped the gene to 10q11----qter. In situ hybridization mapped the gene to 10q21.3-23.1. The gene for the alpha-subunit is thus not physically linked to that for the beta-subunit of the enzyme.
Animals↗
Genetic analysis of colorectal cancer.
Adenomatous polyposis, mainly of the colon, (APC) is a rare dominantly inherited susceptibility to colon cancer in which individuals develop hundreds of polyps mainly in their large bowel. The APC gene has been localised to chromosome 5q21 by following up a case report of an individual with an interstitial deletion on chromosome 5q who had multiple developmental abnormalities together with adenomatous polyposis. A DNA marker (D5S71) was found to be closely linked to APC in family studies and localised to 5q21 by in situ annealing. Material from further patients with deletions in this region of chromosome 5 has been used, by a combination of somatic cell hybrid and long-range DNA analysis, to identify new DNA markers close to the APC gene. These and other markers now provide the basis for genetic counselling of nearly all families with APC. These studies are being extended, together with other approaches for analysing DNA clones around the APC gene, in the search for the gene itself. Allele loss in tumour as compared to normal tissue from sporadic cases of colorectal carcinomas has clearly implicated the APC gene in at least 25 to 40% of all cases of colorectal carcinomas. Similar studies by Vogelstein and others as well as ourselves have further implicated recessive changes on chromosomes 17 and 18 in the development of colorectal carcinomas. Following the demonstration by Vogelstein of the role of p53 mutations in connection with the chromosome 17 changes, we have now shown, using monoclonal antibodies to the mutant p53 products and by other approaches, that changes in the p53 gene may occur in up to 50% or more of colorectal carcinomas. Frequent mutations of the K-ras dominant oncogene, as well as changes in the expression of human leucocyte antigen (HLA)-A, B, C determinants, are further genetic changes that appear commonly to be involved in the progression of colorectal carcinomas. The latter have important implications for T cell immune response to tumours and its manipulation for treatment and even prevention of colorectal cancer. We may soon be approaching a situation when it will become possible to identify all the genetic steps and their sequence during tumour progression, as well as their functional significance largely through the induction of inappropriate growth and the suppression of differentiation.
Adenomatous Polyposis Coli↗
Human T cell leukemia viruses use a receptor determined by human chromosome 17.
Human T cell leukemia viruses (HTLV-I and HTLV-II) can infect many cell types in vitro. HTLV-I and HTLV-II use the same cell surface receptor, as shown by interference with syncytium formation and with infection by vesicular stomatitis virus (VSV) pseudotypes bearing the HTLV envelope glycoproteins. Human-mouse somatic cell hybrids were used to determine which human chromosome was required to confer susceptibility to VSV(HTLV) infection. The only human chromosome common to all susceptible cell hybrids was chromosome 17, and the receptor gene was localized to 17cen-qter. Antibodies to surface antigens known to be determined by genes on 17q did not block the HTLV receptor.
Animals↗
Imaging local cerebral blood flow by Xenon-enhanced computed tomography--technical optimization procedures.
Methods are described for non-invasive, computer-assisted serial scanning throughout the human brain during eight minutes of inhalation of 27%-30% Xenon gas in order to measure local cerebral blood flow (LCBF). Optimized Xenon-enhanced computed tomography (XeCT) was achieved by 5-second scanning at one-minute intervals utilizing a state-of-the-art CT scanner and rapid delivery of Xenon gas via a face mask. Values for local brain-blood partition coefficients (L lambda) measured in vivo were utilized to calculate LCBF values. Previous methods assumed L lambda values to be normal, introducing the risk of systematic errors, because L lambda values differ throughout normal brain and may be altered by disease. Color-coded maps of L lambda and LCBF values were formatted directly onto CT images for exact correlation of function with anatomic and pathologic observations (spatial resolution: 26.5 cubic mm). Results were compared among eight normal volunteers, aged between 50 and 88 years. Mean cortical gray matter blood flow was 46.3 +/- 7.7, for subcortical gray matter was 50.3 +/- 13.2 and for white matter was 18.8 +/- 3.2. Modern CT scanners provide stability, improved signal to noise ratio and minimal radiation scatter. Combining these advantages with rapid Xenon saturation of the blood provides correlations of L lambda and LCBF with images of normal and abnormal brain in a safe, useful and non-invasive manner.
Aged↗
Construction of a genetic map of human chromosome 17 by use of chromosome-mediated gene transfer.
We used somatic-cell hybrids, containing as their only human genetic contribution part or all of chromosome 17, as donors for chromosome-mediated gene transfer. A total of 54 independent transfectant clones were isolated and analyzed by use of probes or isoenzymes for greater than 20 loci located on chromosome 17. By combining the data from this chromosome-mediated gene transfer transfectant panel, conventional somatic-cell hybrids containing well-defined breaks on chromosome 17, and in situ hybridization, we propose the following order for these loci: pter-(TP53-RNP2-D17S1)-(MYH2-MYH1)-D17Z 1-CRYB1-(ERBA1-GCSF-NGL)-acute promyelocytic leukemia breakpoint-RNU2-HOX2-(NGFR-COLIAI-MPO)-GAA-UM PH-GHC-TK1-GALK-qter. Using chromosome-mediated gene transfer, we have also regionally localized the random probes D17S6 to D17S19 on chromosome 17.
Animals↗
Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes.
Using cDNA probes for Factor H (FH) and C4 binding protein (C4BP) on a panel of somatic cell hybrids, we show that both of these genes map to the long arm of chromosome 1.
Animals↗
Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization.
The gene coding for the beta-subunit of the cell surface adhesion glycoprotein LFA-1 has been localized to the tip of the long arm of chromosome 21 at 21q22.1-qter.
Animals↗
Assignment of the gene coding for both the beta-subunit of prolyl 4-hydroxylase and the enzyme disulfide isomerase to human chromosome region 17p11----qter.
The chromosomal location of the human gene coding for both the beta-subunit of prolyl 4-hydroxylase (P4HB) and the enzyme disulfide isomerase (PDI) was determined using mouse x human somatic cell hybrids and three different methods for identifying either the human P4HB/PDI protein or the respective gene: (1) immunoblotting with species-specific monoclonal antibodies; (2) radioimmunoassay with species-specific polyclonal antibodies; and (3) Southern blotting after cleavage of the DNA with EcoRI, HindIII, or BamHI, followed by hybridization with a mixture of two cDNA probes for human P4HB. All three methods gave identical data, demonstrating complete cosegregation of the human protein or its gene in all 17 cell hybrids tested with human chromosome 17. A cell hybrid lacking an intact chromosome 17 localized the gene to 17p11----qter.
Animals↗
Report of the committee on the genetic constitution of chromosome 17.
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Chromosome Mapping↗
Progress towards construction of a total restriction fragment map of a human chromosome.
We present an approach to the construction of an overlapping restriction fragment map of a single human chromosome. A genomic cosmid library genome was constructed from a mouse-human hybrid cell line containing chromosome 17 as its only human genetic component. Cosmids containing human inserts were isolated by hybridisation to a human Alu sequence. DNAs from ninety-six randomly chosen cosmids were digested with either EcoRI or HindIII, end-labelled with 35S-dATP and analysed using agarose gel electrophoresis. Comparison of the restriction fragment patterns revealed two pairs of overlapping clones, that were confirmed by cross-hybridization of the overlapping fragments. The two pairs of cosmids both mapped to human chromosome 17, as shown by hybridization to a panel of somatic cell hybrids. These data demonstrate that the generation of an overlapping cosmid map along a human chromosome is feasible, representing an intermediate step towards the complete sequencing of a human chromosome.
Animals↗
RFLP for the human erb-A1 gene.
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Alleles↗
Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis.
The human 70 kdalton heat-shock protein (HSP 70) is a member of a multigene family which is expressed in response to various physiological stresses including elevated temperatures. Using a cloned genomic HSP 70 DNA sequence we demonstrate by somatic cell hybrid and restriction fragment length polymorphism (RFLP) analyses that there are a minimum of three distinct HSP 70 loci in the human genome, one of which is located on chromosome 6.
Animals↗
Localization of MIC5 to the region between HPRT and G6PD on the human X chromosome.
The X-linked gene, MIC5, encodes a human cell-surface antigen, R1. We have assigned MIC5 to the region between HPRT and G6PD on the long arm of the X chromosome. Regional localization was based on the pattern of reactivity of the R1 monoclonal antibody with human-rodent somatic cell hybrids which contained different fragments of the human X chromosome.
Antibodies, Monoclonal↗
The human alpha 2(IV) collagen gene, COL4A2, is syntenic with the alpha 1(IV) gene, COL4A1, on chromosome 13.
We have previously assigned the gene for the alpha 1 chain of type IV collagen to chromosome 13. In this report we show that the gene coding for the second chain of this heterotrimer is on the same chromosome. This is the first example of the genes for both chains of one collagen molecule being syntenic.
Animals↗
Localization of the oncogene c-erbA2 to human chromosome 3.
The human c-erbA1 gene has been previously mapped to chromosome 17. We have now mapped c-erbA2 to the short arm of chromosome 3, using a human genomic probe in Southern analysis of DNA from a panel of human/mouse somatic cell hybrids. In situ hybridization using the same probe on metaphase chromosomes has enabled fine chromosome mapping of c-erbA2 to the chromosome region 3p21-pter.
Animals↗
Platelet function in patients receiving enprostil.
The effect of 14 days of treatment with enprostil (35 micrograms twice daily) or ranitidine (150 mg twice daily) on platelet function in 21 patients with duodenal ulcer was evaluated in a double-bind, randomized, parallel study. Platelet function, as determined by the results of a coagulation screen, aggregation tests, and an assay for plasma beta-thromboglobulin levels, was assessed before and after 14 days of treatment. No effect on platelet function was observed with either drug in this group of patients.
Adult↗
The human type II collagen gene (COL2A1) assigned to 12q14.3.
A cosmid clone containing the entire human type II alpha 1 collagen gene (COL2A1) was used as probe in the Southern analysis of DNA from a panel of human/hamster somatic cell hybrids containing different portions of human chromosome 12. Two of the hybrids exhibited a similar terminal deletion q14.3----qter, but one was positive for the gene while the other was negative. Therefore, the gene must reside in the region q14.3.
Animals↗