GENETICS AND PREVENTION

GENETICS AND PREVENTION

genetic Diseases

Genetic diseases, changes in a person's DNA (mutations) are the resulting disease. Occurs on the nucleotide sequences of DNA known as genes that change . In this case, the affected gene (s ) deterioration in the functions may occur . Deterioration in the structure of the gene , causing people to regulate the vital functions of the proteins encoded by preventing or wrong to be encoded may destroy the normal structure and function. Such genetic disorders, cause genetic disease.

Disease-causing mutations can occur in the germ cells or somatic cells. Mutations occurring in germ cells ( germ-line mutations), there are mutations that can be passed on to subsequent generations. This condition is hereditary nature of the disease as possible .

Somatic cells, i.e., reproduction and mutation occurring in the differentiation ability of non- tissue cells are not transmitted to the next generation açabilirk people to disease .
Genetic disorders that cause monogenic diseases ( single-gene origin), may be chromosomal or multifactoria


  Monogenic disorders (monogenic disease), the changes that occur in the nucleotide sequence of a single gene (s) originates from. The mutated gene (mutant gene) does not fulfill its function and causes defective proteins encoded. Impaired function of the protein encoded thereby for the wrong disease occurs. These mutations chromosome from their mother and father alleles contain only one or two in one. These mutations are transmitted to the next generation through parents autosomal dominant (dominant), autosomal recessive (recessive) or a transition depends on the X chromosome. Autosomal dominant and autosomal recessive mutations in autosomal chromosomes; i.e. non-sex chromosomes (X and Y except for chromosomes) 22 are mutations occurring in pairs. Monogenic diseases, Gregor Johann Mendel's inheritance for such a transition according to the laws of heredity "Mendelian inheritance" is also called.
In accordance with an autosomal dominant disorder with a pattern can only come from the mother or father of the mutation in the corresponding gene is sufficient for the formation of disease. In other words; about a single parental allele carrying the mutation is caused to transfer disease to children. Under normal circumstances, the likelihood of a healthy and seen the same disease in children is 50% of individuals with a monogenic disease.                                                                      

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