Genetic Testing

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Deoxyribonucleic acid (DNA) is the building block of life. The backbone of DNA is composed of four different bases: thymine (T), guanine (G), adenine (A), and cytosine (C). Each base is then attached to a phosphate group and a sugar, forming a single nucleotide. Genetic information is encoded by the sequence of nucleotides in the strand; therefore, the quantity and sequence of nucleotides in a strand of DNA differs depending upon the organism. Each base’s chemistry renders it specifically complementary with one other base (A-T and C-G). When two complementary strands of DNA come together, base-pairs form between the nucleotides, resulting in the familiar double-stranded double helix structure. The sequence of nucleotides codes for genetic information through what is known as the “central dogma” of molecular biology (DNA  RNA  protein). This process in which the sequence of a strand of DNA (a “gene”) is translated into a protein is known as “gene expression.” Ribonucleic acid (RNA), a single-stranded molecule, is formed inside the nucleus with bases complementary to the nucleotide sequence within the strand of DNA being coded for. This process is known as “transcription” because the RNA molecule, through its complementary sequence, is essentially transcribing the nucleotide sequence of the gene located on that specific section of the DNA strand. The RNA strand then exits the nucleus into the cytoplasm of the cell, taking the DNA sequence information along with it. Once outside the nucleus, the RNA strand codes for the formation of a protein. Each group of three nucleotide bases in the RNA sequence codes for one amino acid, the building block of protein. The amino acids bind in sequence to the RNA molecule and in the process bind to each other. After formation along the RNA strand, the protein is and is then released. The sequence of amino acids in the protein determines its function, such as an enzyme, antibody, hormone, or structural molecule.

Mutations in DNA can occur through several mechanisms. Nucleotides can be deleted from or added to the sequence, or they can be in the incorrect order. These mutations can either be hereditary or through environmental factors resulting in DNA damage.

B. GENETIC TESTING

The presence of certain genes can be detected via gene-specific tests.

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