33^rd Neonatology and Primary Care Congress

Neonatal Genetics

The human genome is often referred to as a "blueprint" and contains all of the information and instructions necessary for defining a human being. The term genome refers collectively to the DNA and associated protein molecules contained in an organism or a cell. The human genome consists of 23 pairs of chromosomes — threadlike packages of genes and other DNA — with each parent contributing one chromosome to each pair. A gene is a specific sequence of DNA and is actually the functional unit of inheritance. Most genes contain the information needed to make a protein, or molecules that carry out all of a cell's vital activities. Therefore, slight variations in genes lead to slight changes in a protein. Although some human diseases are explained by alterations in a single gene or of a single chromosome, most are complex and may involve multiple genes and protein pathways.