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.

    9/324 (page VII)
    CONTENTS Acknowledgements page vii 1 Introduction 1 The inborn errors of metabolism and biochemical individuality, p. 1. Chromosomes and genes, p. 9. Nature and nurture, p. 12. 2 Some aspects of Mendelian heredity in man 16 Gene frequency, p. 16. Rare abnormalities, p. 18, Parental con¬ sanguinity, p. 20. Heterozygotes and homozygotes, p. 23. Sex linkage, p. 26. Genetical equilibrium, p. 28. 3 Aminoacid metabolism: 1 35 Blocks in the metabolism of phenylalanine and tyrosine, p. 35. Phenyl¬ ketonuria, p. 36. Alkaptonxma, p. 49. Tyrosinosis, p. 56. Thyroid hormone formation and goitrous cretinism, p. 57. Melanin forma¬ tion and albinism, p. 63. 4 Aminoacid metabolism: 2 68 The significance of aminoaciduria, p. 68. Cystinuria, p. 72. The Fanconi syndrome, p. 86. Hartnup disease, p. 90. /5-Aminoisobutyric < acid excretion, p. 92. Other aminoacidurias, p. 95. 5 Variations in carbohydrate metabolism 100 The glycogen storage diseases, p. 100. Galactosaemia, p. 108. L-xyloketosuria, p. 116. Fructosuria, p. 119. Renal glycosuria, p. 121. Primaquine sensitivity, p. 127. 6 The human haemoglobins 134 The sickle-cell phenomenon, p. 134. The genetics of sickling, p. 135. Sickle-cell haemoglobin, p. 136. Foetal haemoglobin in sickle-cell anaemia, p. 139. Thalassaemia sickle-cell disease, p. 143. Haemo¬ globin C, p. 146. Haemoglobin D, p. 149. Other haemoglobin variants, p. 150. The properties of the different haemoglobins, p. 151. The structural peculiarity of the haemoglobin variants, p. 153. Genetics of the new haemoglobins, p. 155. The incidence of the haemoglobin variants, p. 161. Mutation and balanced polymorphism, p. 163, 7 The blood-group substances 175 The ABO blood groups, p. 175. Secretors and non-secretors, p. 179. О and H, p. 181. Lewis substance, p. 182. Modifying genes, p. 185. The isolation and properties of the group-specific substances, p. 187. The chemical basis of group specificity, p. 192. Multiple group speci¬ ficities on the same molecule, p. 196. Concluding remarks, p. 199.