dominant genetic mutations Archives

Chromosomal pathologies have a great impact on the health of individuals. Today, research in the field of genetics reveals this. In this article, we will discuss the basic information and classification of chromosome pathologies. What is Chromosome? Chromosomes are structural units inside our cells that carry genetic information. Humans have 46 chromosome pairs. These chromosomes are the organized form of DNA. What are Chromosome Pathologies? Chromosomal pathologies are abnormalities in the structure or number of chromosomes. These abnormalities are usually present from birth. They prevent the genetic material from working properly. Down Syndrome (Trisomy 21) The one of the most commonly known chromosomal pathologies is Down syndrome. It occurs when the 21st chromosome p...

Genetic factors are one of the key components that have a significant impact on an individual's health. Genes regulate a person's bodily functions, determine their physical characteristics, and potentially affect their susceptibility to disease. In this article, we will examine the role of genetic factors in disease development. The impact of genetic factors on disease development is a complex concept. It will be explained through both monogenic diseases and polygenic diseases. Monogenic Diseases and Genetic Predisposition Monogenic diseases are diseases in which a single genetic change (mutation) causes the development of a disease. Examples of such diseases include cystic fibrosis, sickle cell anemia, and Huntington's disease. The development of these diseases depends on the prese...

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What are Chromosome Pathologies?

The Role of Genetic Factors in Disease Development