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Genetic Disorders and Diseases – Know About Them



Genetic diseases, caused by an abnormality by an abnormality in a person’s genome and even the person’s entire genetic makeup, can range from minuscule to major and from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality. Some of these genetic disorders are inherited; from parents; while others are caused by acquired changes or mutations in a pre-existing gene or group of genes. Not to mention the mutations that can occur either randomly or due to some environmental exposure.

Know about Different Types of Inheritance?

Genetic inheritances are divided into different categories – mainly four categories that include:

Single Gene

It is caused by changes or mutations in the DNA sequence of the single gene. Don’t surprise as there are more than 6000 known single-gene disorders that may occur to 1 in 100 or sometimes not. Cystic fibrosis, sickle cell anemia, Marfan syndrome, Huntington’s disease and Hemochromatosis are different single gene disorders.

Multi-Factorial

This type of genetic disorder may take place due to amalgamation of environmental factors and mutations in multiple genes. Heart diseases, high blood pressure, Alzheimer’s diseases, arthritis, diabetes, cancer and obesity are different types of potential diseases that may take place due to this type of disorder. It also shows impacts in fingerprint patterns, height, eye color and skin color.

Not to mention chromosome abnormalities that are the important DNA and protein structure located in the nucleus of each cell. It is important to know that chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure that can result in disease.

Mitochondrial Inheritance

This genetic disorder is due to mutations in the non-nuclear DNA of mitochondria – small round organelles – involved in cellular respiration or found in the cytoplasm of plant and animal cells. Each mitochondrion contains 5 to 10 circular pieces of DNA. Not to mention egg cells, but not sperm cells
that keep their mitochondria for the duration of fertilization. Mitochondrial DNA is inherited from the female parent.  Some of the common diseases include, but not limited to:

·         Eye disease – called Leber’s hereditary optic atrophy
·         Epilepsy that stands for Myoclonic Epilepsy with ragged red fibers
·         A form of dementia, lactic acidosis and stroke-like episodes

Before the genetic diseases passes to next generation, it is important to get the genetic tests done. For this, it is important to find a clinic where such genetic diseases are done. ARThealthcare has been offering you such tests. You have to schedule an appointment according to your choice.



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