書籍詳細

2. 遺伝と代謝異常

P.28 掲載の参考文献

• 1) Rosenberg, L. E.:Vitamin-Responsive Inherited Metabolic Disorders, Advances in Human Genetics, 6, Edited by H. Harris and K. Hirschhorn, Plenum Press. New York and London.

• 2) 和田義郎:ビタミン要求性の異常, 代謝 15 (6), 臨時増刊「ヒトの遺伝」, 163, 中山書店.

• 3) 荻田善一:酵素変異の遺伝生化学, 遺伝学と医学, 159, 共立出版K. K.

• 4) Brock, D. J. H., and Mayo., O. (ed.):The Biochemical Genetics of Man, Academic Press, New York (1972).

• 5) 井上英二, 荻田善一:優性遺伝病の発症機構, 代謝 15 (6), 臨時増刊「ヒトの遺伝」155, 中山書店.

• 6) Brown, M. S. & Goldstein, J. L.:N. Engl. J. Med., 294, 1386 (1976)
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• 7) Higgins, M. J. P., et al:Lancet, 1, 737 (1975)

• 8) Pinnell, S. R., et al.:N. Engl. J. Med., 286, 1013 (1972)
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• 9) Lichtenstein, J. R., et al.:Science, 182, 298 (1973)
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• 12) Romeo, G.:Human. Genet., 39, 261 (1977)
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• 15) 山村研一, 荻田善一:成人病の遺伝的基礎, 「ヒトの遺伝」287, 中山書店

3. ヘモグロビンの異常

P.60 掲載の参考文献

• 1) Huehns, E. R. and Beaven, G. H.:Developmental changes in human hemoglobins. Clin. Develop. Med., 37:175-201, 1971.

• 2) Bard, H.:The postnatal decline of hemoglobin F synthesis in normal full-term infants. J. Clin. Invest., 55:395-398, 1975.
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• 3) Wood, W. G., Stamatoyannopoulos, G., Lim, G. and Nute, P. E.:F-cells in the adult:normal values and levels in individuals with hereditary and acquired elevations of Hb F. Blood, 46:671-682, 1975.
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• 4) Huisman, T. H. J., Schroeder, W. A., Efremov, G. D., Duma, H., Mladenovski, B., Hyman, C. B., Rachmilewitz, E. A., Bouver, N., Miller, A., Brodie, A., Shelton, J. R., Shelton, J. B. and Apell, G.:The present status of the heterogeneity of fetal hemoglobin in β-thalassemia:an attempt to unify some observations in thalassemia and related conditions. Ann. N. Y. Acad. Sci., 2321107-124, 1974.

• 5) Allen, D. W., Schroeder, W. A. and Balog, J.:Observation on the chromatographic heterogeneity of normal adult and fetal human hemoglobin:a study of the effects of crystalization and chromatography on the heterogeneity and isoleucine content. J. Am. Chem. Soc., 80:1628-1634, 1958.

• 6) Dayhoff, M. O.:Atlas of Protein Sequence and Structure 1972, pp. 17-30, 67-87 and D 51-D 85, The National Biochemical Research Foundation, Silver Spring, Maryland, 1972.

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• 8) Huisman, T. H. J.:Normal and Abnormal Human Hemoglobins. Adv. Clin. Chem., 15:150-253, 1972.

• 9) Schroeder, W. A., Huisman, T. H. J., Shelton, J. R., Shelton, J. B., Kleihauer, E. F., Dozy, E. M. Robberson, B.:Evidence for multiple structural genes for the γ chain of human fetal hemoglobin. Proc. Natl. Acad. Sci., 60:537-544, 1968.

• 10) Ricco, G., Mazza, U., Turi, R. M., Pich, P. G., Camaschella, C., Saglio, G. and Bernini, L. F.:Significance of a new type of human fetal hemoglobin carring a replacement isoleucine→threonine at position 75 (E19) of the γ chain. Human Gerlet., 32:305-313, 1976.

• 11) Kendrew, J. C., Dickerson, R. E., Standberg, B. E., Hart, R. G., Davies, D. R., Phillips, D. C. and Shore, V. C.:Structure of myoglobin. A three dimensional Fourier synthesisat 2A. resolution. Nature, 185:422-427, 1960.

• 12) Takano, T.:Structure of myoglobin refined at 2.OA resolution. I. Crystallographic refinement of metmyoglobin from sperm whale. J. Mol. Biol., 110:537-568, 1977.

• 13) Takano, T.:Structure of myoglobin refined at 2.OA resolution. H. Structure of deoxymyoglobin from sperm whale. J. Mol. Biol., 110:569-584, 1977.

• 14) Perutz, M. F.:Structure and mechanism of haemoglobin. Brit. J. Med. Bull., 32:195-208, 1976.

• 15) Fermi, G.:Three-dimensional Fourier synthesis of human deoxyhaemoglobin at 2.5A resolution:refinement of the atomic model. J. Mol. Biol., 97:237-256, 1975.

• 16) Sack, J. S., Andrews, L. C., Magnus, K. A., Hanson, J. C., Rubin, J. and Love, W. E.:Location of amino acid residues in human deoxy hemoglobin. Hemoglobin, 2:153-169, 1978.
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• 17) International Hemoglobin Information Center:Variants of the alpha chain. Hemoglobin, 2:471-491, 1978.

• 18) International Hemoglobin Information Center:Variants of the beta chain. Hemoglobin, 2:565-598, 1978.

• 19) International Hemoglobin Information Center:Variants of the delta chain. Variants of the gamma chain. Fusion hemoglobins. Extended chains. Deleted residues. More than one point mutation in the same chain. Hemoglobin 3:99-115, 1979.

• 20) Lehmann, H., Huntsman, R. G. and Young, F. G.:Man's Haemoglobins, North-Holland, Amsterdam-Oxford, 1974.

• 21) Ohba, Y., Miyaji, T., Matsuoka, M., Sugiyama, K., Suzuki, T. and Sugiura, T.:Hemoglobin Mizuho or beta 68 (E 12) leucine→proline, a new unstable variant associated with severe hemolytic anemia. Hemoglobin, 1:467-477, 1977.

• 22) 宮地隆興, 大庭雄三:ヘモグロビン異常症. 診断と治療, 64:222-228, 1976.

• 23) Gottfried, E. L. and Robertson, N. A.:Glycerol lysis time as a screening test for erythrocyte disorders. J. Lab. Clin. Med., 83:323-333, 1974.
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• 24) Koepke, J. A., Thoma, J. F. and Schmidt, R. M.:Identification of human hemoglobins by use of isoelectric focusing in gel. Clin. Chem., 21:1953-1955, 1975.

• 25) 山岡宏太郎, 太田善郎, 清田正司:薄層澱粉ゲル電気泳動法-特に異常血色素症検索のために-. 臨血, 13:800-804, 1972.

• 26) Shibata, S. and Iuchi, I.:A simple technique of agar gel electrophoresis for rapid separation of hemoglobins. Acta Haemat. Jap., 24:51-58, 1961.

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• 28) Weatherall, D. J. and Clegg, J. B.:The thalassaemia syndromes, 2nd ed., Blackwell, Oxford, 1972.

• 29) Matuonto, V., Cappellini, M. D. and Fiorelli, G.:Comparison between electrophoresis and DEAE-microchromatography for the quantitation of haemoglobin A2.J. Chromatogr., 92:174-176, 1974.

• 30) Brociouis, E. M., Wright, J. M., Baine, R. M. and Schmidt, M.:Microchromatographic methods for hemoglobin A2 quantitation compared. Clin. Chem., 24:2196-2199, 1978.

• 31) Ueda, S., Shibata, S., Miyaji, T. and Ohba, Y.:Routine Hb A2 estimation by cellulose acetate membrane electrophoresis. Kawasaki Med. J., 1:133, 1975.

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• 33) Betke, K., Marti, H. R. and Schlicht, I.:Estimation of small percentage of faetal haemoglobin. Nature, 184:1877-1878, 1959.

• 34) Schroeder, W. A., Huisman, T. H. J., Shelton, J. R. and Wilson, J. B.:An improved method for quantitative determination of human fetal hemoglobin. Anal. Biochem., 35:235-243, 1970.

• 35) Kleihauer, E., Braun, H. and Betke, K.:Demonstration von faetalem Haemoglobin in den Erythrocyten eine Blutstrichs. Klin. Wschr., 35:637-638, 1957.

• 36) Carrell, H. W. and Kay, R.:A simple method for the detection of unstable haemoglobins. Brit. J. Haemat., 23:615-619, 1972.

• 37) Dacie, J. V., Grimes, A. J., Meisler, A., Steingold, L., Hemsted, E. H., Beaven, G. H. and White, J. C.:Hereditary Heinz-body anaemia. A report of studies on 5 patients with mild anaemia. Brit. J. Haemat., 10:388-402, 1964.

• 38) Rosemyer, M. A. and Huehns, E. R.:On the mechanism of the dissociation of haemoglobins. J. Mol. Biol., 25:253-273, 1967.

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• 42) Jones, R. T. and Koler, R. D.:A proposal for reporting and recording of studies of abnormal human hemoglobins. In:Schmidt, R. M., ed., Abnormal Haemoglobins and Thalassaemia, Diagnostic Aspects, pp. 311-322, Academic Press, New York-San Francisco-London, 1975.

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P.96 掲載の参考文献

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4. 膜の異常

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5. 転送の障害

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