Marfan Syndrome Glossary of Terms 


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'A' (Adenine): One of the four bases that make up DNA. Abbreviated with an 'A'.

Amino acids: A class of molecules that are the building blocks of proteins.

Aorta: The large artery and its branches that deliver oxygenated blood from the heart to the rest of the body.

Atrium: A chamber in the heart. The left atrium receives oxygenated blood from the lung and sends it to the left ventricle.

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Base: A small molecule inside the larger molecule of DNA. Bases - A, C, G, and T - are arranged in line in a DNA molecule (e.g. CGGTACAGG) and encode instructions for making proteins.

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Chromosome: Chromosomes are packages of DNA found in the nucleus of cells. Humans have 46 chromosomes.

Connective tissue: Structures that keep the body from falling apart, including bones, tendons, ligaments, and fibers.

'C' (Cytosine): One of the four bases that make up DNA. Abbreviated with a 'C'.

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dissection: A tear in the inner layer of the aorta, usually accompanied by pain.

DNA: Short for deoxyribonucleic acid, DNA is the molecule that carries genetic information.

Dominant: A genetic trait or disorder is dominant when only one copy of the mutated gene is necessary for the trait to develop. A recessive trait or disorder develops when two copies of the mutated gene are inherited.

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FBN1: The gene that encodes instructions for building fibrillin. Many different mutations in FBN1 cause Marfan syndrome.

Fibrillin: One of the proteins that make up the body's connective tissues. Fibrillin must be made from the body's genes, it cannot be obtained from food.

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Gene: A portion of DNA that contains instructions for making a protein.

Genotype: The genetic composition of a person. Usually used when considering one gene or chromosome (e.g. people with Marfan syndrome have a Mm genotype, people without have a mm).

'G' (Guanine): One of the four bases that make up DNA. Abbreviated with a 'G'.

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Lens dislocation: When the ligaments holding the eye lens in place weaken, and the lens shifts to an off-center position.

Ligament: A connective tissue that connects bone to bone.

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Microfibril: A microscopic fiber present in many connective tissues. In Marfan syndrome, the microfibril is weak.

Mitral valve: The valve in the heart separating the atrium from the ventricle. The valve prevents blood from flowing backward into the atrium when the ventricle contracts.

Mitral valve prolapse: A condition where the mitral valve does not close properly and blood can flow backward when the ventricle contracts.

Mutation: A change in the sequence of a gene.

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PCR/Polymerase chain reaction: A method to increase or amplify specific sequences of DNA. This method can be used to detect the presence of changes in DNA sequence that can be the cause of genetic disorders.

Punnett square: A method of showing the potential offspring of two parents.

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Regurgitation: When blood flows backward from the ventricle to the atrium.

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Scoliosis: A side-to-side curvature of the spine. (Viewed from the front or back, the spine is usually straight).

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Tendon: Connective tissue that connects muscle to bone.

'T' (Thymine): One of the four bases that make up DNA. Abbreviated with a 'T'.

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Ventricle: A chamber in the heart. The left ventricle receives oxygenated blood from the left atrium and ejects it into the aorta.

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