THEORETICAL QUESTIONS NECESSARY FOR ACHIEVING of the PRACTICAL CLASSES

Date: 2015-10-07; view: 431.

ORGANIZATIONAL STRUCTURE of the PRACTICAL STUDY

Biochemical analysis.

Biochemical methods of examination are used to diagnosis of hereditary metabolism diseases. The aim of the methods is detection of gene mutation.

Proofs of mutations presence may be:

1. relative (presence of changed protein, changed quantity of biochemical reactions initial materials, changed quantity of biochemical reactions products, presence of anomalous biochemical materials).

2. absolute (presence of changes in DNA, presence of changes mRNA).

Relative proofs of mutations may be received by varied biochemical methods.

Modern equipment allows giving quantitative evaluations practically all material from all tissues of organism. For example, it is possible to detect quantity of carbohydrate, uric acid, copper, prostaglandin, hormones, and etc. The most often are used the following methods: qualitative tests of urine; chromatography of amniotic liquid, blood, urines; detection of electrolytes in sweat liquids and the others.

DNA analysis is utilized for taking of absolute proofs of mutation presence. The clinical applications can be broadly divided into indirect mutant gene tracking and direct mutant gene analysis.

1. Aims and steps of pedigree analysis.

2. Rules of building of a pedigree tree.

3. Aims of analysis of a pedigree tree.

4. Rules of finding of prognosis of birth of sick child.

5. Foundations, biological basis and clinical importance of the biochemical methods.