Biochemical Abnormalities in Hereditary Diseases
1962; American College of Physicians; Volume: 57; Issue: 3 Linguagem: Inglês
10.7326/0003-4819-57-3-472
ISSN1539-3704
Autores Tópico(s)Nutrition, Genetics, and Disease
ResumoClinical Staff Conference1 September 1962Biochemical Abnormalities in Hereditary DiseasesJOSEPH J. BUNIM, M.D., F.A.C.P., ROBERT S. KROOTH, M.D., ARNOLD WEINBERG, M.D., R. RODNEY HOWELL, M.D., BERT N. LA DU, M.D., J. E. SEEGMILLER, M.D.JOSEPH J. BUNIM, M.D., F.A.C.P.Search for more papers by this author, ROBERT S. KROOTH, M.D.Search for more papers by this author, ARNOLD WEINBERG, M.D.Search for more papers by this author, R. RODNEY HOWELL, M.D.Search for more papers by this author, BERT N. LA DU, M.D.Search for more papers by this author, J. E. SEEGMILLER, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-57-3-472 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDr. Joseph J. Bunim: In a recent Harvey lecture (1), Dr. James V. Neel stated that "The ultimate basis of biogenetic traits resides in some 20 thousand pairs of genes. The term gene refers to that functional subdivision of chromosomes which conveys a unit biochemical message." To be able to intercept this message and to interpret it in precise biochemical language by means of growing human cell lines in tissue culture and by quantitatively analyzing their enzymatic contents, is a breakthrough in human genetics of considerable magnitude and even greater promise.Soon after Dr. Robert Krooth came to the National...References1. NEEL JV: A geneticist looks at modern medicine. The Harvey Lectures, Series 56, Academic Press, New York, 1960-61, p. 127. Google Scholar2. LEVINTOWEAGLE LH: Biochemistry of cultured mammalian cells. Ann. Rev. Biochem. 30: 605, 1961. CrossrefGoogle Scholar3. SATOZAROFFMILLS GLSE: Tissue culture populations and their relation to the tissue of origin. Proc. Nat. Acad. Sci. 46: 963, 1960. CrossrefMedlineGoogle Scholar4. GARTLER S: A study of the glucose-6-phosphate dehydrogenase mutant in cell culture. Paper read before the Second International Conference of Human Genetics, Rome, 1961. Google Scholar5. DEMARS R: The inhibition by glutamine of glutamyl transferase formation in cultures of human cells. Biochem. Biophys. Acta 27: 435, 1958. CrossrefMedlineGoogle Scholar6. STERN C: Somatic crossing over and segregation in Drosophila melanogaster. Genetics 21: 625, 1936. CrossrefMedlineGoogle Scholar7. KROOTHWEINBERG RSAN: Studies on cell lines developed from the tissues of patients with galactosemia. J. Exp. Med. 113: 1155, 1961. CrossrefMedlineGoogle Scholar8. LELOIR LF: The enzymatic transformation of uridine diphosphate glucose into a galactose derivative. Arch. Biochem. 33: 186, 1951. CrossrefMedlineGoogle Scholar9. KALCKARBRAGANCAMUNCH-PETER-SEN HMBA: Uridyl transferases and the formation of uridine diphosphogalactose. Nature 172: 1038, 1953. CrossrefMedlineGoogle Scholar10. KALCKARANDERSONISSELBACHER HMEPKJ: Galactosemia, a congenital defect in a nucleotide transferase. Biochem. Biophys. Acta 20: 262, 1956. CrossrefMedlineGoogle Scholar11. KURAHASHIWAHBA KAJ: Inhibition of growth of E. coli mutants by galactose. Fed. Proc. 16: 207, 1957. Google Scholar12. TAKAHARA S: Progressive oral gangrene probably due to lack of catalase in the blood (acatalasaemia). Report on nine cases. Lancet 2: 1101, 1952. CrossrefMedlineGoogle Scholar13. KAZIROKIKUCHINAKAMURAYOSHIYA KGHM: Die Frage nach der physiologischen Funktion der Katalase im menschlichen Organismus; Notiz über die Entdeckung einer Konstitutionsanomalie "Anenzymia Catalasea." Chem. Ber. 85: 886, 1952. CrossrefGoogle Scholar14. WYNGAARDENHOWELL JBRR: Acatalasia, in The Metabolic Basis of Inherited Disease, ed. by Stanbury, J. B., Wyngaarden, J. B., and Fredrickson, D. S., McGraw-Hill Book Company, Inc., New York, 1960. Google Scholar15. TAKAHARAHAMILTONNEELKOBARAOGURANISHIMURA SHBJVTYYET: Hypocatalasemia: a new genetic carrier state. J. Clin. Invest. 39: 610, 1960. CrossrefMedlineGoogle Scholar16. PUCKCIECIURAROBINSON TTSJA: Genetics of somatic mammalian cells. III. Long term cultivation of euploid cells from human and animal subjects. J. Exp. Med. 108: 945, 1958. CrossrefMedlineGoogle Scholar17. BEERSSIZER RFIW: A spectrophotometric method for measuring the breakdown of hydrogen peroxide by catalase. J. Biol. Chem. 195: 133, 1952. CrossrefMedlineGoogle Scholar18. WALLACEMOLDAVEMEISTER HWKA: Studies on conversion of phenylalanine to tyrosine in phenylpyruvic oligophrenia. Proc. Soc. Exp. Biol. Med. 94: 632, 1957. CrossrefMedlineGoogle Scholar19. MITOMAAULDUDENFRIEND CRMS: On the nature of enzymatic defect in phenylpyruvic oligophrenia. Proc. Soc. Exp. Biol. Med. 94: 634, 1957. CrossrefMedlineGoogle Scholar20. UDENFRIEND S: Phenylketonuria. Amer. J. Clin. Nutr. 9: 691, 1961. CrossrefMedlineGoogle Scholar21. KAUFMAN S: Phenylalanine hydroxylation cofactor in phenylketonuria. Science 128: 1506, 1958. CrossrefMedlineGoogle Scholar22. ARMSTRONGCENTERWALLHORNERLowWEIL MDWRFANLWB: The development of biochemical abnormalities in Phenylketonuric infants, in Chemical Pathology of the Nervous System, Proceedings of the Third International Neurochemical Symposium, held at Strasbourg, ed. by Folch-Pi, J., Pergamon Press Ltd., 1961, p. 38. Google Scholar23. KENNEYKRETCHMER FTN: Hepatic metabolism of phenylalanine during development. J. Clin. Invest. 38: 2189, 1959. CrossrefMedlineGoogle Scholar24. KRETCHMERLEVINEMCNAMARABARNETT NSZHHL: Certain aspects of tyrosine metabolism in the young. I. The development of the tyrosine oxidizing system in human liver. J. Clin. Invest. 35: 236, 1956. CrossrefMedlineGoogle Scholar25. KRETCHMERMCNAMARA NH: Certain aspects of tyrosine metabolism in the young. II. The tyrosine oxidizing system of fetal rat liver. J. Clin. Invest. 35: 1089, 1956. CrossrefMedlineGoogle Scholar26. NUGENTTYLER CAFH: The renal excretion of uric acid in patients with gout and in non gouty subjects. J. Clin. Invest. 38: 1890, 1959. CrossrefMedlineGoogle Scholar27. WYNGAARDEN JB: On the dual etiology of hyperuricemia in primary gout. Arthritis Rheum. 3: 414, 1960. CrossrefMedlineGoogle Scholar28. BENEDICTFORSHAMSTETTEN JDPHD: The metabolism of uric acid in the normal and gouty human studied with the aid of isotopic uric acid. J. Biol. Chem. 181: 183, 1949. CrossrefMedlineGoogle Scholar29. SORENSON LB: Degradation of uric acid in man. Metabolism 8: 687, 1959. MedlineGoogle Scholar30. SEEGMILLERHOWELL JERR: Uricolysis by human leukocytes. Fed. Proc. 21: 73, 1962. Google Scholar31. BENEDICTROCHEYUBIENGUTMANSTETTEN JDMTFEJABD: Incorporation of glycine nitrogen into uric acid in normal and gouty man. Metabolism 1: 3, 1952. MedlineGoogle Scholar32. SEEGMILLERGRAYZELLASTERLIDDLE JEAILL: Uric acid production in gout. J. Clin. Invest. 40: 1304, 1961. CrossrefMedlineGoogle Scholar33. SEEGMILLERGRAYZELHOWELLPLATO JEAIRRC: The renal excretion of uric acid in gout. J. Clin. Invest. 41: 1094, 1962. CrossrefMedlineGoogle Scholar34. PONTECORVO G: Methods of microbial genetics in an approach to human genetics. Brit. Med. Bull. 18: 81, 1962. CrossrefMedlineGoogle Scholar35. SUSKIND SR: Gene function and enzyme formation, in The Chemical Basis of Heredity, ed. by McElroy, W. D., and Glass, B., The Johns Hopkins Press, Baltimore, 1957, p. 123. Google Scholar36. INGRAM VM: Hemoglobin and Its Abnormalities, Charles C Thomas, Springfield, Illinois, 1961. Google Scholar37. JACOBMONOD FJ: Genetic regulatory mechanisms in the synthesis of proteins. J. Molec. Biol. 3: 318, 1961. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Bethesda, MarylandThis is an edited transcription of a combined clinical staff conference at the Clinical Center, Bethesda, Maryland, by the National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Public Health Service, Department of Health, Education, and Welfare.Requests for reprints should be addressed to Joseph J. Bunim, M.D., National Institute of Arthritis and Metabolic Diseases, Bethesda 14, Maryland. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byCystinosis Combined Clinical Staff Conference at the National Institutes of HealthJ. EDWIN SEEGMILLER, M.D., THEODORE FRIEDMANN, M.D., HAROLD E. HARRISON, M.D., VERNON WONG, M.D., JERRY A. SCHNEIDER, M.D.Heredity of gout and hyperuricemiaMedical genetics 1962Biochemistry of Uric Acid and Its Relation to Gout 1 September 1962Volume 57, Issue 3Page: 472-497KeywordsChromosomesGenetic diseasesGeneticsHuman geneticsInfantsMedical servicesMetabolic disordersPrevention, policy, and public healthTissue culturesUric acid Issue Published: 1 September 1962 PDF downloadLoading ...
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