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February 1, 2018 | Pathology | By admin | 0 Comments

By J. B. Walter

ISBN-10: 0721691218

ISBN-13: 9780721691213

Re-creation of this easy-to-read textual content has been up to date and revised to hide new details on scientific genetics, immune reaction, and contains the most recent findings in AIDS. Acquaints the reader with basic features of area of expertise parts together with bacteriology, biochemistry, hematology, radiology, and surgical procedure. in actual fact reproduced photographs, micrographs, and line drawings make clear thoughts provided within the textual content

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4. Males and females are equally liable to be affected. Huntingtons chorea, achondroplasia, osteogenesis imperfecta, and multi­ ple neurofibromatosis (Fig. 3-2) are examples of diseases inherited as domi­ nant traits. Frequently, these are severe and reduce the breeding potential of the affected person. The mode of transmission is shown diagrammatically in Figure 3-3. The following features should be noted: 1. The birth of an abnormal child is usually the first indication of the con­ dition. Figure 3-2.

The disease is due to the absence of an enzyme that converts the amino acid phenylalanine to tyrosine. Hence, with a normal diet an affected baby develops a high blood level of phenylalanine and its keto derivatives. These cause brain damage, which can be largely averted by the administration of a diet low in phenylalanine. Early diagnosis, by finding phenylalanine or its derivatives in the urine, is therefore very important. The condition is inherited as a mendelian autosomal recessive trait; 1 per cent of the population are hétérozygotes, and the condition can be detected by the administration of a test dose of phenylalanine, when the blood level rises.

Such genes, forming a pair, are called alleles. An individual with a pair of similar genes is called homozygous, whereas if the genes are dissimilar, he is heterozygous. The genetic make-up of an individual is called the genotype, and the effect that is produced is called the phenotype. It is basic in modern genetics to assume that genes occur in pairs, that one of each pair is received from each parent, and that the genes remain unchanged through many generations. T h e simplest approach to the mode of inheritance of a particular characteristic — for example, a disease — is to consider that the condition is due to a single-gene disorder.

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An Introduction to the Principles of Disease by J. B. Walter

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