GENOMICS
| CELL |
| Cells are the basic building blocks of all living things. The human body is composed of trillions of cells. Cells also contain the body’s hereditary material and can make copies of themselves. |
| DNA |
DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a person’s body has the same DNA. The information in DNA is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). DNA molecules have a very distinct and characteristic three-dimensional structure known as the double helix. Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people.
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| CHROMOSOMES |
| DNA in the human genome is arranged into distinct chromosomes--physically separate molecules that range in length from about 50 million to 250 million base pairs. In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differs between males and females. Females have two copies of the X chromosome, while males have one X and one Y chromosome. |
| GENE |
| A gene is the basic physical and functional unit of heredity. Genes are specific sequence of bases that encode instructions on how to make proteins. Genes are transmitted from parents to offspring. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes. |
| PROTEINS |
| Proteins are large, complex molecules that play many critical roles in the body. They are required for the structure, function and regulation of the body’s tissues and organs. Proteins are made up of hundreds or thousands of smaller units called amino acids, which are attached to one another in long chains. |
| GENOME |
The genome is an organism’s complete set of DNA. Genomes vary widely in size: the smallest known genome for a free-living organism (a bacterium) contains about 600,000 DNA base pairs, while human and mouse genomes have some 3 billion base pairs.
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| MUTATION |
| A gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome. Gene mutations occur in two ways: they can be inherited from a parent or acquired during a person’s lifetime. |
| SNP |
| SNPs are sites in the human genome where individuals differ in their DNA sequence, often by a single base. Although more than 99% of human DNA sequences are the same, variations in the DNA sequence can have a major impact on how humans respond to disease, environmental factors, drugs and other therapies. There are around 10 million SNPs that have been identified in the human genome. |
| HEREDITY |
| The genetic transmission of characteristics from parent to offspring. |
| TRAITS |
| Characteristics or attributes of an organism that are expressed by genes and/or influenced by the environment. |
| GENOTYPE |
| The genotype of an individual is the genetic information carried by the person’s genes , whether or not the genes are actively expressed as proteins. |
| PHENOTYPE |
| It denotes all the observable characteristics of an individual, such as physical appearance (eye colour, height, etc.) and internal physiology. It is determined in part by genes and in part by environment and way of life. |
| GENOME ANALYSIS |
Techniques used to determine and compare this genetic information in the genome comprises genome analysis.
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| GENETIC TESTING |
| Analyzing DNA or the gene products that provide specific information about the inherited variations in the genes of an individual. |
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