Human biochemical genetics / by H. Harris.

  • Harris, Harry, 1919-1994.
Date:
1966
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Human biochemical genetics / by H. Harris. Source: Wellcome Collection.

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    MELANIN FORMATION AND ALBINISM 65 a strikingly high incidence of parental consanguinity (about 20-30 per cent), and this is in fact rather higher than estimates of the incidence of the condition (about 1 in 20,000 in Great Britain) would lead one to anticipate (75). A plausible explanation of the discrepancy is that several gene mutations at different loci may each lead to a similar defect in pigment formation. Further support for this idea of such genetical heterogeneity in this condition has been provided by the description of a family in which both parents were albinos but the children were quite normal (76). Presumably here the parents were homozygous for different abnormal genes, probably at separate chromosomal loci. Localised forms of albinism also occur. One example of this is 'ocular albinism' where the defect in pigmentation is peculiar to the globe of the eye, and there are no obvious albinotic changes else¬ where. This is inherited as a sex-linked character. Nothing is known about its possible biochemical basis. REFERENCES (1) Fölling, A. (1934). Hoppe-Seyl. Z. 227, 169. (2) Jervis, G. A. (1954). Res. Pubi. Ass. Nerv. Ment. Dis. 33, 259. (3) Munro, T. A. (1947). Ann. Eugen., bond. 14, 60. (4) Jervis, G. A. (1937). Arch. Neurol. Psychiat. 38, 944. (5) Cowie, V. and Penrose, L. S. (1951). Ann. Eugen., bond. 15, 297. (6) Penrose, L. S. (1935). Lancet, 2, 192. (7) Zeller, E. A. (1943). Helv. Chim. Acta, 26, 1614. (8) Dann, M,, Marples, E. and Levine, S. Z. (1943). J. Clin. Invest. 22, 87. (9) Jervis, G. A. (1950). Proc. Soc. Exp. Biol. N.Y. 75, 83. (10) Woolf, L. I. (1951). Biochem. J. 49, 9. (11) Armstrong, M. D. and Robinson, К. S. (1954). Arch. Biochem. Biophys. 52, 287. (12) Armstrong, M. D., Shaw, К. N. F. and Robinson, К. S. (1955). J. Biol. Chem. 213, 797. (13) Boscott, R. J. and Bickel, H. (1935). Scand. J. Clin. Lab. Invest. 5, 380. (14) Pare, C. M. В., Sandler, M. and Stacey, R. S. (1957). Lancet, 1, 551. (15) Borek, E., Brecher, A., Jervis, G. A. and Waeisch, H. (1950). Proc. Soc. Exp. Biol. N. Y. 75, 86. (16) Jervis, G. A., Block, R. J., Boiling, D. and Kanze, E. (1940). J. Biol. Chem. 134, 105. (17) Bickel, H., Gerrard, J. and Hickmans, E. M. (1954). Acta Paed. 43, 64. (18) Armstrong, M. D. and Low, N. L. (1957). Proc. Soc. Exp. Biol. N. Y. 94, 142.