Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria
| Autor: | Troll W, Driscoll Kw, Hsia Dy, Knox We |
|---|---|
| Rok vydání: | 1956 |
| Předmět: |
Genetics
chemistry.chemical_classification Heterozygote medicine.medical_specialty Multidisciplinary business.industry Phenylalanine Molecular Disease Heterozygote advantage Drug Tolerance Asymptomatic % total haemoglobin Endocrinology Enzyme chemistry Phenylketonurias Internal medicine Hereditary Diseases Immune Tolerance Humans Medicine medicine.symptom business Gene |
| Zdroj: | Nature. 178:1239-1240 |
| ISSN: | 1476-4687 0028-0836 |
| DOI: | 10.1038/1781239a0 |
| Popis: | PAULING introduced the term ‘molecular disease’ for the hereditary condition of sickle cell anaemia, in which the clinical signs in both the heterozygous carriers with the sickling trait, and the homozygous patients with the anaemia, are explained by the fraction of abnormal haemoglobin molecules present1. Only a part of the total haemoglobin is the abnormal type in the heterozygote with one abnormal gene, whereas nearly all the haemoglobin is the abnormal type in the homozygote with two abnormal genes. An extension of this concept of molecular disease leads to the prediction that in hereditary diseases associated with the loss of activity of an enzyme, the asymptomatic heterozygotes should be identifiable by having less than the normal amount of the enzyme primarily involved in the disease2. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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