MINISTRY OF EDUCATION AND SCIENCE OF UKRAINE

NATIONAL AVIATION UNIVERSITY

Institute of ecological safety

DEPARTMENT OF BIOTECHNOLOGY

Homework

Biochemical methods in genetics

Student : Tania Kuts

Group IES 204

Instructor: Vasylchenko O.A.

Kyiv 2013

Plan

1. Introduction.

2. Methods of studying human heredity.

3. Biochemical methods, their value.

4. The best known biochemical research methods.

5. Diagnosis of disorders of amino acid metabolism.

6. What causes glycosuria?

7. Conclusion.

8. References.

1.Introduction

Biochemical methods used to diagnose metabolic diseases caused by the changes in activity of certain enzymes. Using biochemical methods openly about 5,000 molecular diseases that result from the manifestation of mutant genes. When different types of disease can identify himself or abnormal protein - an enzyme or intermediate products of metabolism. These methods are very time-consuming, require special equipment and can not be used for mass population studies for early identification of patients with hereditary disorders of exchange.

In recent years, many countries developed and used for public research special programs. The first phase of the program lies in the fact that among the large number of subjects to select likely patients who have some inherited abnormalities. Such a program is called sifting or screening program (English sreening - sieving). This stage is usually used a small number of simple, accessible techniques (rapid method). Express methods are based on simple qualitative reaction detection of metabolic products in urine, blood. At the second stage of a refinement (confirmation or rejection of the diagnosis when false-positive reaction in the first stage). It uses accurate chromatographic methods for determination of enzymes, amino acids, etc..

Also used microbiological tests, which are based on the fact that some strains of bacteria grow only in media containing certain amino acids, carbohydrates. It was possible to obtain strains that substances are substrates or intermediate metabolites in patients with metabolic. If blood or urine is a necessary ingredient for growth, in petri dish around the filter paper impregnated with one of these fluids, there is active multiplication of microbes, which is not the case in the analysis of a healthy person. Developed different versions of microbiological methods.

 

2.Methods of studying human heredity.

Human Genetics - industry, closely associated with anthropology and medicine. Human Genetics conventionally divided into antropohenety that studies heredity and variation of normal traits of the human body and medical genetics, which examines his hereditary pathology (diseases, defects, deformities, etc.).. Human Genetics is also linked with the theory of evolution as exploring the specific mechanisms of evolution of humans and their place in nature with psychology, philosophy, sociology. In areas of human genetics most intensively developing cytogenetics, biochemical genetics, immunogenetics, genetics of higher nervous activity, physiological genetics.

Methods of studying human heredity:

1. Genealogical method

Based on the study of the inheritance of the trait in families for several generations. The method allows to determine whether inherited this trait, track splitting attributes in the offspring, as well as allelic genes that cause disorders in the body. There are forms of congenital recessive deafness and schizophrenia. According to the principle of inherited recessive severe metabolic diseases: diabetes mellitus and phenylketonuria.

2. Twins method

The man in 1% of cases born twins. They could be fraternal or identical. Different sex twins develop from two different eggs fertilized simultaneously by two male gametes, but identical - with one egg, disconnected early cleavage zygote. Different sex twins, although are very similar, but more often resemble each other no more than ordinary siblings born at different times, and they are heterosexual. The study of identical twins who live in different environments, allows to determine the effect of environment on the manifestation of hereditary traits, and find out whether a given trait inherited.

3. Cytogenetic method

Based on the microscopic study of chromosomes. The method allows us to study normal human karyotype and detect hereditary diseases caused by genomic and chromosomal mutations. A special method to paint chromosome regions depending on their structure. This allows us to distinguish even resembled chromosome. In cytogenetic studies typically use blood lymphocytes, which are cultivated on artificial media. Research conducted chromosomes at metaphase.

4. Biochemical methods

Based on the study of metabolism. These methods are widely used in the diagnosis of hereditary diseases caused by gene mutations, and the detection of heterozygous carriers of diseases. As we already know, genes are not in themselves form the signs, and with their encoded proteins. Proteins are formed in the body interconnected system of biochemical reactions. The study of these reactions and can detect many diseases.

5. Methods of molecular genetics and genetic engineering.

Allows us to study the organization of the genetic apparatus, the molecular structure of genes and genotypes, the nucleotide sequence set - as they say, sequenced the human genome and many other organisms, to determine the molecular mechanisms of gene expression. Methods of determining the function of genes, gene cloning. Debugged DNA diagnostics (detection of kinship, ID cards), successes in gene therapy of inherited diseases.