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XIII.—The Genetic Basis of Alkaptonuria

Published online by Cambridge University Press:  15 September 2014

Lancelot Hogben ,
R. L. Worrall  and
I. Zieve
Lancelot Hogben
Affiliation:
Department of Social Biology, University of London
R. L. Worrall
Affiliation:
Department of Social Biology, University of London
I. Zieve
Affiliation:
Department of Social Biology, University of London
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Summary

1. The overwhelming majority of cases of alkaptonuria are consistent with the hypothesis that this disease is determined by a single autosomal recessive gene substitution.

2. The observed proportion of alkaptonurics in recorded fraternities with two normal parents and the incidence of consanguineous parentage conform quantitatively to the requirements of Mendelian hypothesis in a system of random mating.

3. There appears to be an alternative form of alkaptonuria which is dominant.

Grateful acknowledgment is made to Sir Archibald Garrod for advice regarding the sources consulted.

Type
Proceedings
Information
Proceedings of the Royal Society of Edinburgh , Volume 52 , 1933 , pp. 264 - 295
Copyright
Copyright © Royal Society of Edinburgh 1933

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References

BIBLIOGRAPHY

1.Abderhalden, , 1907, Zeitschr. f. phys. Chem., vol. lii, p. 435.CrossRefGoogle Scholar
2.Albrecht, , 1902, Zeitsch.f. Heilkunde, p. 366.Google Scholar
3.van Amstel, , 1909-1910, Med. Weekbi. Amst., vol. xvi, pp. 527, 540, 557, 564, 575, 587.Google Scholar
4.Armstrong, , 1882, Dublin Journ. of Med. Sci., vol. lxxiii, p. 53.Google Scholar
5.Baar, , 1925, Wiener med. Woch., vol. lxxv, p. 878.Google Scholar
6.Baldwin, , 1913, Amer. Journ. Med. Sci., vol. cxlv, p. 123.Google Scholar
7.Bagnall, , 1929, New England Journ. of Med., vol. cci, p. 422.CrossRefGoogle Scholar
8.Bandel, , 1906, Münch. med. Woch., vol. liii, p. 1091.Google Scholar
9.Bauer, J., 1928, Wiener med. Woch., vol. lxxviii, p. 839.Google Scholar
10.Bauer, O., 1928-1930, Mitteilungen aus dem Grenzgebieten der Med. u. Chir., vol. xli, p. 451.Google Scholar
11.Baumann, and Kraske, , 1891, Münch. med. Woch., p. 1.Google Scholar
12.Baumann, and Wolkow, , 1891, Zeitschr. f. phys. Chem., vol. xv, p. 228.Google Scholar
13.Bilderback, , 1922, Amer. Journ. of Dis. of Children (Chicago), vol. xxiii, p. 259.Google Scholar
14.Blum, , 1907, Münch. med. Woch., p. 1055.Google Scholar
15.Bödeker, , 1859, Zeitschr. f. rat. Med., p. 130.Google Scholar
16.Bose, and Ghosh, , 1929, Ind. Med. Gaz., vol. lxiv, p. 61.Google Scholar
17.Braid, and Hickman, , 1924, Arch. of Dis. in Childhood, vol. iv, p. 389.Google Scholar
18.Clemens, , 1907, Vortrag a. d. Cong. f. in. Med. (Discussions).Google Scholar
19.Cuthbert, , 1923, Lancet, No. I, p. 2593.Google Scholar
20.Dahlberg, , 1930, Journ. Genetics, xiv; 1930, Hereditas, xiv.Google Scholar
21.Debendetti, , 1920, Policlin. Rom. (sez. Prat.), vol. xxvii, p. 1379.Google Scholar
22.Deniges, , 1897, Journ. de Pharm. et de Chem., p. 50.Google Scholar
23.Ebstein, and Müller, , 1875, Virchows Arch., p. 554.CrossRefGoogle Scholar
24.Fleischer, , 1875, Berl. klin. Woch., vol. xii, pp. 529 and 547.Google Scholar
25.Fromherz, , 1908, Über Alkaptonurie; Dissertation, Strassburg.Google Scholar
26.Fürbringer, , 1875, Berl. klin. Woch., vol. xii, pp. 313 and 330.Google Scholar
27.Futcher, , 1898, New York Med. Journ., vol. lxvii, p. 69.Google Scholar
28.Galloway, , 1898, Brit. Journ. of Dermatology, p. 450.Google Scholar
29.Garnier, and Voisin, , 1892, Arch. de Physiol., p. 225.Google Scholar
30.Gareod, , 1899, Trans. Med.-Chir. Soc., vol. lxxxii, p. 367.CrossRefGoogle Scholar
31.Garrod, , 1901, Lancet, No. II, p. 1484.CrossRefGoogle Scholar
32.Garrod, , 1902, Trans. Med.-Chir. Soc., vol. lxxxv, p. 69.Google Scholar
33.Garrod, , 1902, Lancet, vol. ii, p. 1616.CrossRefGoogle Scholar
34.Garrod, and Clarke, , 1907, Biochem. Journ., p. 217.CrossRefGoogle Scholar
35.Gerhardt, , 1904, Münch. med. Woch., vol. li, p. 176.Google Scholar
36.Geyger, , 1892, Pharm. Zeitung, p. 488.Google Scholar
37.Gibson, and Howard, , 1921, Trans, of Assoc. of Amer. Physicians, vol. xxxvi, p. 258.Google Scholar
38.Graanboom, , 1908, Ned. Tijdschr. v. Geneesk., p. 1741.Google Scholar
39.Grutterink, , 1907, Ned. Tijdschr. v. Geneesk, No. II, p. 1117.Google Scholar
40.Hogben, , 1931, Journal of Genetics.Google Scholar
41.Johnson, , 1864, Urine and Urinary Deposits.Google Scholar
42.Katsch, , 1918, Münch. med. Woch., vol. lxv, No. II, p. 1337.Google Scholar
43.King, E. F., 1915, Trans. of Amer. Urological Assoc, vol. ix, p. 459.Google Scholar
44.Kirk, , 1886, Brit. Med. Journ., vol. ii, p. 1017.Google Scholar
45.Kleinschmidt, , 1922, Frankfurter Zeitschr. f. Pathologie, vol. xxviii, p. 73.Google Scholar
46.Kolaczek, , 1911, Beiträge z. klin. Chir., vol. lxxi, p. 254.Google Scholar
47.Landois, , 1908, Arch. f. pathol. Anat. u. Physiol. von Virchow, vol. cxciii, p. 275.CrossRefGoogle Scholar
48.Langstein, and Meyer, , 1903, Deutsches Arch. f. klin. Med., vol. lxxviii, p. 161.Google Scholar
49.Lenz, , 1919, Münch. med. Woch., vol. lxvi.Google Scholar
50.Lereboullet, , 1920, Le progrès médical, p. 452.Google Scholar
51.Lockwood, , 1924, Journ. Amer. Med. Assoc, vol. lxxxiii, p. 2091.CrossRefGoogle Scholar
52.Maguire, , 1884, Brit. Med. Journ., p. 808.CrossRefGoogle Scholar
53.Marshall, , 1887, Medical News (Philadelphia), vol. 1, p. 35.Google Scholar
54.Mitchell, , 1910, Med. Record, p. 103.Google Scholar
55.Mittelbach, , 1901, Deutsches Arch. f. klin. Med., vol. lxx, p. 50.Google Scholar
56.Meyer, , 1901, Deutsches Arch. f. klin. Med., vol. lxx, p. 443.Google Scholar
57.Moraczewski, , 1896, Centralbl. f. in. Med., vol. xvii, p. 177.Google Scholar
58.Noccioli, and Domenici, , 1898, Gaz. degli Ospedale, vol. xix, p. 303.Google Scholar
59.Ogden, , 1895, Zeitschr.f. phys. Chem., vol. xx, p. 280.Google Scholar
60.Orsi, , 1889, Gaz. Med. Lomb., vol. xlviii, p. 115.Google Scholar
61.Osler, , 1904, Lancet, No. I, p. 10.CrossRefGoogle Scholar
62.Pavy, , vide GARROD, 1902, Lancet.Google Scholar
63.Pieter, , 1925, Presse méd. (Paris), vol. xxxiii, p. 1310.Google Scholar
64.Poulsen, , 1910, Beitr. z. path. Anat. u. z. allgemeine Pathol., vol. xlviii, p. 347.Google Scholar
65.Poulsen, , 1912, Münch. med. Woch., vol. lvii, No. I, p. 364.Google Scholar
66.Rahmlow, , 1930, Monatschr. f. Umfallheilkunde, vol. xxxvii, p. 403.Google Scholar
67.Ravold, and Warren, , 1910, Journ. Biol. Chem., Baltimore, vol. vii, p. 465.Google Scholar
68.Reinwein, , 1931, Deutsches Arch. f. klin. Med., vol. clxx, p. 327.Google Scholar
69.Rocher, and Basset, , 1909, Gaz. heb. des Sciences, vol. xxx, p. 472.Google Scholar
70.Sachs, , 1931, Deutsches Arch. f. klin. Med., vol. clxx, p. 344.Google Scholar
71.Schmitt, , 1882, Union Pharm. Lille, p. 111.Google Scholar
72.Schumm, , 1904, Münch. med. Woch., p. 1599.Google Scholar
73.Sinha, , 1930, Ind. Med. Gaz., vol. lxv, p. 153.Google Scholar
74.Slosse, , 1895, Ann. d. I. Soc. Roy. d. Sci. méd. et nat., Bruxelles, p. 89.Google Scholar
75.Smith, , 1882, Dublin Journ. of Med. Sci., vol. lxxiii, p. 465.CrossRefGoogle Scholar
76.Stange, , 1896, Virchows Arch., vol. cxlvi, p. 86.CrossRefGoogle Scholar
77.Stier, , 1898, Beri. klin. Woch., vol. xxxv, p. 185.Google Scholar
78.Toenissen, , 1922, Zeitschr. Ind. Abstammungs u. Vererbungs Lehre, vol. xxix, p. 26.Google Scholar
79.Wagner, , 1908, Zeitschr. f. klin. Med., vol. lxv, p. 119.Google Scholar
80.Winternitz, , 1899, Münch. med. Woch., p. 749.Google Scholar
81.Yysendyck, , 1906, Presse méd. belg., p. 1088.Google Scholar
82.Young, , 1924, Glasgow Med. Journ., vol. ci, p. 214.Google Scholar
83.Zimper, , 1903, Über Alkaptonurie; Dissertation, Wurzberg.Google Scholar