Understanding Genetic Diseases

Genetic disorders are diseases which are simply caused in whole or in part by a variation in form or the mutation of a particular human gene. As scientists are now unlocking the various secrets of the human genome, the scientific world is preparing for the different surprises that it will be getting from the study of genetics. The various numbers of diseases that may be prevented include the many types of cancer or different illnesses that are caused by gene mutations.

The mutations of these particular genes may be triggered by different mutations such as random environmental exposures to different substances. One particular example is cigarette smoke which essentially explains the occurrence of cancer.

However, there are different diseases that are essentially hereditary. The mutated gene is passed down through a family’s line and each generation of children will eventually inherit a gene that causes the disease.

Most genetic disorders are called "multifactorial inheritance disorders" which means that they come from a combination of different minute variations in genes which occur with different environmental factors.

Current mutations that are being studied right now in the human genome project are more commonly seen as different alterations in the genes of an individual’s cells. There are different types of genetic alterations in the genes of a particular individual’s cells. Some of these are breast cancer or colon cancer.

These particular genes have a hereditary form. For these cases, the gene variants that are causing a strong predisposition for a person to develop these cancers significantly increase each member for these particular diseases.

Types of genetic disorders

There are different groups of genetic disorders and they are divided into three different categories.

  • single gene disorders
  • chromosome disorders
  • multifactorial inheritance disorders

Single Gene Disorder

These are mutations in only a single gene. The mutation could possibly be present on one or both chromosomes. Examples of single cell diseases are Tay-Sachs, skin cell disease and cystic fibrosis.

Chromosome Disorders

These types of disorders are caused by an excess or deficiency of the different genes that are located on chromosomes or structural changes that are located in different chromosomes. Down syndrome is one particular example of this type of disorder.

Multifactorial Inheritance Disorders

This is one of the many disorders that is caused by the combination of minute variations in genes which are a result of environmental factors. Heart disease as well as most cancers are examples of this preventable disorders.


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