The health of a person is always in danger of getting disturbed due to the surrounding factors of environment. But this is the external threat which can be dealt by taking precautions beforehand.

There are many problems, diseases or malfunctions of body that are evolved due to the internal genetic factors particularly abnormality in the human genetic material (genome). The greatest threat for health of a person is therefore the genetic disease. The genetic diseases are simply caused by abnormalities or malfunctioning in the chromosomes or genes of a person. This abnormality can vary from the minute to the malignant. The malfunctioning can be in a form of a distinct transformation in a single base in the DNA of one gene to the coarse chromosome abnormality. It may also lead to the inclusion or exclusion of a complete chromosome or a set of it. The genetic diseases are either inherited from or transmitted by the parents of the person or they are caused by the sudden mutations or changes in the preexisting genes or a group of them. This transformation in the normal functioning genes takes place either randomly or due to some external environmental factors.

The genetic diseases are caused due to the number of reasons. The DNA in every person’s body is a molecule with a shape of a spiral whose function is to control the existence of all the living creatures. Gene is a special part of this DNA which regulates the proteins of the body. Both these elements combined are arranged together on the chromosomes. The genes predetermine and regulate the proteins such as enzymes which are responsible for different bodily functions. The genes themselves are not responsible for the cause of genetic diseases. There are some changes that occur either randomly or due to the environmental exposure in the genes that lead to the production of genetic diseases.

Four types of genetic diseases are there. These are single gene, multifactorial, chromosomal and mitochondrial. There are 3965 types of genetic diseases which are very difficult to discuss and count. Autosomal genetic diseases, X-linked genetic diseases, Dominant genetic diseases and Autosomal genetic diseases are some of the major types of the genetic diseases. One of the types of genetic inheritance is the single gene inheritance which is discussed above also. It is also known as ‘monogenetic inheritance’. The disorders or diseases caused by this inheritance are known as monogentic disorders. They are developed due to the mutations or transformations in the DNA sequence of a single particular gene. Out of every 200 births, there is a possibility of 1 person to develop this type of disorder. Sickle cell anemia, Huntington’s disease, cystic fibrosis, hemochromatosis and marfan syndrome are some examples of monogenetic disorders. Multifactorial or polygenic inheritance disorders are caused by the combination of environmental factors and changes in multiple genes. Most of the common known diseases are multifactorial. Some examples are obesity, diabetes, cancer, heart disease, high blood pressure etc. Chromosomes 6, 11, 13, 14, 15, 17, and 22 have the genes that have been found responsible for the cause of breast cancer. Mitochondrial genetic disorders are caused due to changes in the nonchromosomal DNA of mitochondria. Leber’s hereditary optic atrophy (eye disease) and a type of epilepsy called MERRF are examples of mitochondrial disorders. Turner syndrome and Klinefelter syndrome are the chromosomal disorders caused by the mutations in the working of the chromosomal network

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