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Albinism-Glossary

Medically Reviewed by dr. simi paknikar, MD on Dec 08, 2020


Glossary

Albinism: Lack of color in the skin, eyes and hair.

Amino acids: Natural substances that are the building blocks of protein.

Astigmatism: An eye condition in which the lens doesn't focus light evenly on the retina, leading to problems with visual sharpness.

Carrier: A person with one normal gene and one faulty gene, who can pass on a condition to others without actually having symptoms.


Chromosome: In prokaryotes, the intact DNA molecule containing the genome. In eukaryotes, a DNA molecule complexed with RNA and protein into a threadlike structure containing a linear array of genes.

DNA:The abbreviation for "deoxyribonucleic acid," the primary carrier of genetic information found in the chromosomes of almost all organisms.

Deletion: Loss of a segment of DNA from a chromosome.


Enzyme: A protein that helps the body to convert one chemical substance to another.

Gene: The basic unit of genetic material.

Hairbulb: The root of a strand of hair from which the color develops.

Hermansky-Pudlak Syndrome (HPS): A rare type of albinism characterized by a problem with blood clotting and a buildup of waxy material in lungs and intestines.

Inbreeding: Mating between two closely related organisms.

Melanin: Pigment made in the hair, skin and eyes.

Nystagmus: An involuntary back-and-forth movement of the Eyes.

DOPA: The common name for a natural chemical (3, 4-dihydroxyphenylalanine) made by the body during the process of making melanin.

Photophobia: Sensitivity of the eyes to bright lights and glare.

Platelets: one of three types of blood cells. The platelet is the smallest cellular element of the blood and is needed for proper clotting.

Strabismus: Crossed or "lazy" eyes, often found in albinism.

Sex chromosome: A chromosome involved in sex determination. An example is the X and Y chromosomes of humans.

Tyrosine: A protein building block found in a wide variety of foods that is used by the body to make melanin.

Tyrosinase: An enzyme in a pigment cell, which helps change tyrosine to DOPA during the process of making melanin.

Trait: A detectable phenotypic expression of an inherited characteristic.

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