If there is some abnormal symptom shown in any individual’s genome then it is termed genetic disease. These irregularities are a outcome of mutation. Mutation is a perpetual modification in the DNA sequence. The series of mutation could vary as of a single DNA to a hefty segment of chromosome. The mutation can as well happen in two methods each random or due to some natural disaster.
What is the human genome?
The cell is a basic unit in all-human body. And this cell contains a thousand of genes. And these genes together called a human genome. The genes are arranged in a grouping which is named as chromosomes. The human genome is made of DNA and is stored on 46 chromosomes (23 pairs). The one pair determines sex and 22 pairs are autosomal. These chromosomes contains almost 20500 protein coding genes i.e. 3 billion base pairs of DNA. That’s why we can say that the human genome is the main treasury for human inheritance.
What is genetic disease?
If there is any abnormal symptom shown in any person’s genome then it is called genetic disease. These abnormalities are a result of mutation. Mutation is a permanent modification in the DNA sequence. The range of mutation can vary from a single DNA to a large segment of chromosome. The mutation can also occur in two ways either random or due to some natural disaster. A genetic disease transmission can be done in various ways, as it can be transferred through one parent or both parent and it can be transferred in one child or more, the all depend on mutation types. These genetic diseases sometime easily detected at the time of birth but sometime it becomes very complicated to diagnose.
What are the different types of inheritance?
Single gene inheritance:
This inheritance also named as monogenetic inheritance. In this type of inheritance the changes start with mutation in a single gene. Because of these changes in the gene, the code for a functional protein part is declined. This results in non-functional protein and many other consequences.
There are large number of monogenetic diseases including sickle cell anaemia, Marfan syndrome, cystic fibrosis, and hemochromatosis. These single gene diseases are inherited in following manners: X-linked, autosomal dominant and autosomal recessive.
This inheritance is also named as multifactorial inheritance. In this inheritance mutation occurs in multiple genes. The random changes and natural disaster also plays a role in this type of mutations. The polygenic diseases are much more complex than the diseases that are caused by single gene inheritance. These diseases are not only hard to recognize but also hard to cure.
There are so many polygenic diseases like diabetes, Alzheimer's disease, obesity, heart disease, arthritis, high blood pressure, diabetes and cancer. It is inherited in following manners: - skin colour, eye colour, height and fingerprint patterns
A large DNA molecule composed of genes is named as chromosome. The chromosome is situated in cell nucleus. If there is any abnormality, structural changes or changes in number of chromosomes then this causes very dangerous genetic disease called chromosomal disease. These diseases can be easily detected sometimes by using microscope. These diseases occur at the point where chromosome translocation.
Mitochondria are round shaped or sometimes rod shaped small organelles and functional in cellular respiration in plant and animal cell. When the mutation occurs in the mitochondrial nonchromosomal DNA, it is named as mitochondrial inheritance. This inheritance is transmitted from female parent only as the mitochondrial DNA is only transferred from mother.
Treatment of Genetic Diseases:-
The treatment is not so easy for the genetic diseases but you can minimize the effects occurring due to these diseases. The diseases can’t be treated by removing the defective genes or chromosomes. You can only minimize the symptoms. Some drugs are also available to control some of these genetic diseases. However, these drugs can only control or reduce the disease effects.
Tips and comments:
Know what the truth and the myths are about genetic diseases, if they exist in your family's history. Many are manageable and life doesn't have to suffer as much because of them.
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