[Reduction of acute intussusception in infants under ultrasonic control].
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Acute Disease↗
Biomedical subjects
D Weil
Publications and source records attributed to D Weil.
Thermodynamic stability of cosmological models.
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Journal Article↗
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.
Ehlers-Danlos syndrome (EDS) type IV is a rare and catastrophic genetic disorder of the connective tissue. Individuals from two families with this disorder were studied for a restriction fragment length polymorphism (RFLP) associated with the COL3A1 gene. Our results suggested cosegregation of the EDS type IV phenotype with a COL3A1 RFLP allele. Biochemical studies in cultured skin fibroblasts indicated the presence of different mutations affecting the stability and secretion of the pro alpha 1(III) chains of type III procollagen in the two families, thus suggesting that EDS type IV is biochemically heterogeneous. Our data demonstrated the feasibility of molecular diagnosis in this condition using COL3A1 gene related RFLPs.
Alleles↗
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.
We have characterized 19 DNA fragments originating from the human X chromosome. Most of them have been isolated from an X chromosome genomic library (Davies et al. 1981) using a systematic screening procedure. These DNA probes have been used to search for restriction fragment length polymorphisms (RFLP). The frequency of restriction polymorphisms (1 per 350 bp analysed) was lower than expected from data obtained with autosomal fragments. The various probes have been mapped within 12 subchromosomal regions using a panel of human-rodent hybrid cell lines. The validity of the panel was established by hybridization experiments performed with 27 X-specific DNA probes, which yielded information on the relative position of translocation breakpoints on the X chromosome. The DNAs from the various hybrid lines are blotted onto a reusable support which allows one to quickly map any new X-specific DNA fragment. The probes already isolated should be of use to map unbalanced X chromosome aberrations or to characterize new somatic cell hybrid lines. The probes which detect RFLPs define new genetic markers which will help to construct a detailed linkage map of the human X chromosome, and might also serve for the diagnosis of carriers or prenatal diagnosis.
Animals↗
The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene--a useful marker for human chromosome 2.
We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X human somatic cell hybrids. Our results provide evidence for the assignment of this gene to the short arm of human chromosome 2 (p23-pter). We have used the cDNA probes to identify three common DNA polymorphisms. The first, detected with the restriction enzyme XbaI and our probe pAB4, has a rare allele frequency of 0.48. The other two polymorphisms are detected with the probe pAB3. The enzyme MspI detects at least three alleles, with frequencies of 0.67, 0.16 and 0.15, while that detected with the enzyme EcoRI has a rare allele frequency of 0.12. The relative position of these polymorphisms has been mapped using the genomic recombinants. Investigation of a small number of haplotypes indicates that there is linkage equilibrium between the polymorphisms, which have a total polymorphism information content (PIC) value of more than 0.8. These polymorphisms will provide useful markers for genetic studies on chromosome 2 and for the analysis of the involvement of variants of the apo B gene in the development of hyperlipidaemia.
Animals↗
The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1).
A recombinant probe specific for the pro alpha 2 chain of human Type V collagen has been used for the localization of the corresponding gene (COL5A2) to chromosome 2. Regional mapping by in situ hybridization and analysis of DNA from human X rodent cell lines indicated that COL5A2 is confined within the segment 2q14----2q32, thus syntenic to the pro alpha 1 (III) collagen gene (COL3A1).
Animals↗
Prevalence of measles antibodies in hospital personnel.
A community outbreak of measles prompted a serologic survey of personnel in a hospital serving that community. Two hundred sixty-six personnel, primarily physicians (129) and nurses (100), voluntarily participated. Serum specimens were initially tested by the immunofluorescent antibody and enzyme-linked immunosorbent assay (EIA) methods. Specimens with negative results by either test were further examined using the hemagglutination inhibition and plaque neutralization (PN) methods. If EIA and PN results were negative, an individual was considered susceptible. Only one of the 98 participants born during or after 1957 and none of the 168 participants born before 1957 were serosusceptible. The low rate of serosusceptibility, in contrast to previous studies of young adults, appears attributable to the sensitivity of the testing methods used. Based on our experience, institutions considering a measles serologic testing and immunization program should expect to identify very few serosusceptible personnel, even among those born during or after 1957.
Adult↗
Further evidence for the dispersion of the human fibrillar collagen genes.
Recombinant DNA probes specific for the human pro alpha 1(II) and pro alpha 1(III) collagen chains have been used for the chromosomal localization of the two genes. Restriction endonuclease analysis of DNA from human-rodent hybrid cell lines in conjunction with in situ hybridization of human metaphasic chromosomes have shown that the gene coding for the pro alpha 1 chain of type II collagen (COL2A1) is located on chromosome 12 in the segment 12q131----12q132. Likewise, the gene coding for the pro alpha 1 chain of type III collagen (COL3A1) was assigned to the segment 2q31----2q323 of chromosome 2.
Animals↗
Panel of twenty-five independent man-rodent hybrids for human genetic marker mapping.
To increase the efficiency of the human gene mapping, a panel of 25 man-rodent hybrids was selected out of 200 independent man-rodent hybrids produced in our laboratory since 1969. The hybrid panel was selected in such a fashion as to allow the asignment of a human marker M by respecting the two following complementary criteria: correlation between M and a chromosome and exclusion of the other chromosomes. The panel characteristics allowing the use of these two criteria were presented and discussed. A first series of enzyme markers were analysed to test the validity of the hybrid panel for the human gene mapping. The different possibilities and limits of the hybrid panel were also discussed, especially for the assignment of markers with DNA probes.
Animals↗
Escherichia coli sepsis from contaminated platelet transfusion.
Transfusion of pooled platelet concentrate (PC) caused a septic reaction characterized by sustained hypotension, high cardiac output, and low systemic vascular resistance. Investigation demonstrated the same strain of Escherichia coli in the patient's blood, the transfused pooled PC, and recalled packed red blood cells separated from the same unit of whole blood as one of the platelet units in the contaminated pool. Five hundred other units of PC from the same supplier were cultured prospectively, and 7% were bacterially contaminated. The level of contamination was 20 or fewer colony-forming units per milliliter in all except one unit, the only one associated with a febrile transfusion reaction. This episode illustrates the continuing importance of sepsis as a cause of platelet transfusion reactions and demonstrates the usefulness of appropriate cultures and epidemiologic information in assessing the source.
Blood Preservation↗
[Acute intestinal intussusception in infants and children and abdominal ultrasonography].
Ultrasound imaging findings of the invaginated bud are described in 60 young children referred with a suspected acute intestinal intussusception over a period of 5 months. An initial group of 28 children were examined by ultrasonography and a barium enema for diagnostic and possible therapeutic purposes. The second series of 32 children were a therapeutic enema only when ultrasound images provided a positive diagnosis. The method is considered to be a reliable one requiring less medication, and has the principal advantage of suppression of the need for diagnostic barium enema.
Abdomen↗
Analysis of the promoter region and the N-propeptide domain of the human pro alpha 2(I) collagen gene.
We have located the exon coding for the start site of transcription of the human pro alpha 2(I) collagen gene. Comparison with the homologous region of other fibrillar collagen genes has confirmed the existence of a consensus sequence (CATGTCTA-n-TAGACATG) capable of forming a hairpin secondary structure possibly involved in the regulation of collagen biosynthesis. Sequence comparison of the chromosomal regions at the 5' end of the pro alpha 1(I) and pro alpha 2(I) collagen genes failed to identify unique DNA elements potentially mediating common regulatory signals. Sequencing of four exons coding for the N-terminal propeptide has determined most of its structure and it has implied the existence of smaller coding units similar to the 11 and 18 bp exons originally described in the avian gene.
Animals↗
Human cellular fibronectin: comparison of the carboxyl-terminal portion with rat identifies primary structural domains separated by hypervariable regions.
We report the isolation and characterization of four overlapping cDNA clones coding for human cellular fibronectin which continuously cover more than 3 kilobases in length. The nucleotide sequence of these cDNAs has been determined, thus elucidating the amino acid sequence of the C-terminal 794 residues of human fibronectin, which cover the edge of cellular-, heparin-, and fibrin-binding domains of this protein. Comparisons of the nucleotide sequences and the deduced amino acid sequences with those of rat [Schwarzbauer, J. E., Tamkun, J. W., Lemischka, I. R., & Hynes, R. O. (1983) Cell (Cambridge, Mass.) 35, 421] indicate a high degree of conservation at both nucleotide and amino acid levels. Comparison with previously published data on amino acid sequences of bovine fibronectin made it possible to identify structurally important features of the protein during the evolution of human, calf, and rat. The deduced human amino acid sequences contain five type III and three type I repeats of internal homologies. The interspecies conservation in amino acids is more pronounced in regions containing the internal repeats and within each functional domain. The implications of these interspecies conservation and divergence are discussed.
Amino Acid Sequence↗
Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene.
A cDNA library constructed from human fibroblast poly(A+) RNA was screened for the identification of chimeric molecules bearing collagen-specific sequences. Analysis of three of the resulting positive clones showed that they encoded for the COOH-terminal propeptide region of the human Type III collagen. In addition, three overlapping clones covering more than 21 kilobases of the Type III gene were isolated from Charon 4A libraries of human genomic fragments. Identity between these and the cDNA clones was obtained by direct DNA sequencing. Establishment of the exon/intron arrangement of the Type III gene was obtained by electron microscopic analysis in conjunction with sequencing of selected genomic regions. Sequence comparison with other collagen genes confirmed some evolutionary features of this important family of proteins. Finally, the collinearity of two mRNA transcripts with 3' noncoding region length polymorphism was established.
Amino Acid Sequence↗
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19.
We have synthesised a mixed oligonucleotide 17 bases long and used it to isolate cDNA clones for apolipoprotein CI (apo CI) from an adult liver cDNA library. The partial sequence of one of these clones confirms its identity. We have used this probe and Southern blotting techniques to identify the human apo CI gene in DNA from a series of rodent X human somatic cell hybrids. Our results provide evidence for the assignment of this gene to human chromosome 19.
Animals↗
The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific.
Several clones containing clusters of repetitive elements were isolated from a human chromosome 22 specific library. An EcoRI-XhoI fragment of 860bp was subcloned and was shown to belong to a family of tandemly repeated DNA linked to the Y-specific 3.4 kb HaeIII band. This probe hybridizes to several sets of sequences or subfamilies. The most abundant subfamily is a 1.8kb long sequence containing one EcoRV site, and in most repeats, one AvaII and one KpnI site. Using human-rodent somatic cell hybrid DNA, we have shown that this cluster is present on human chromosome 9 although presence on chromosome 15 is not excluded. Another subfamily, 6.1kb long, appears to be exclusive of chromosome 16. By in situ hybridization with metaphasic chromosomes, these sets of repeats were mapped to the constitutive heterochromatin of a few chromosomes. Coexistence in one genome of long tandem repeats of distinct organization but similar length may represent the outcome of a continuous process of fixation of variant sequences. Homologous repeats are also abundant in four higher primate genomes (Orangutan, gorilla, chimpanzee, and man) but absent in other primates (African green monkey, rhesus monkey, baboon, and mouse lemur).
Animals↗
Prevalence and significance of Legionella pneumophila contamination of residential hot-tap water systems.
A culture survey of hot-tap water systems in 95 apartments and houses in one area of Chicago showed that 30 (32%) were contaminated by Legionella pneumophila, ranging in concentration from 1 to 10(4) organisms/liter. Culture-positive and -negative systems differed significantly only in hot-tap water temperature (P less than .005), which was less than 60 C for all positive specimens. A questionnaire and serosurvey of a subject at each residence showed no cases of pneumonia while he or she lived in the residence and no association of high titers of antibodies to L. pneumophila with positive tap water cultures. Virulence of selected tap water isolates of L. pneumophila in embryonated eggs was similar to that of clinical isolates. In the area studied, residential hot-tap water systems maintained at less than 60 C are frequently contaminated by L. pneumophila, but systems with low levels of contamination (less than or equal to 10(4) organisms/liter) appear not to be an important source of infection of healthy individuals.
Agglutination Tests↗
The structural gene for aldolase B (ALDB) maps to 9q13----32.
We used a cloned cDNA probe for the B subunit of human aldolase (ALDB) and Southern blotting techniques to analyse DNA from a series of rodent X human somatic cell hybrids for the presence of specific ALDB-related sequences. Our results provide evidence for the assignment of the gene for ALDB to chromosome 9. Moreover, by direct gene dosage determination in two patients with chromosome 9 unbalanced rearrangements and by in situ hybridization we refined the regional chromosomal assignment to 9q13----q32 and most probably to 9q21.3----9q22.2.
Animals↗