Overview of Single Gene Defects
What are genes?Genes are what determine your traits, such as eye color and blood type. They are contained on our chromosomes, which normally number 46 (23 pairs) in each cell of our body. There are an estimated 25,000 genes contained on these 46 chromosomes. Genes are made of DNA. DNA is an acronym for deoxyribonucleic acid. DNA is made up of base pairs that code for certain proteins. So, ultimately, a gene, or a section of our DNA, makes a protein. There is also DNA in-between genes, which does not code for anything in particular, but simply serves as a "spacer." Therefore, not all of the DNA in our cells is used to make protein products.
The idea of inheritance was first described by an Austrian monk whose name was Gregor Mendel. Mendel performed experiments on garden peas, in order to determine patterns of inheritance. These basic patterns are sometimes called "Mendelian" or "traditional" inheritance. The basic patterns of inheritance are: autosomal dominant, autosomal recessive, and X-linked inheritance.
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