Albinism. By Elizama Pons Dr. Thomas Brennan Mrs. McMahon Bronx Community College. Introduction.
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Bioinformatics is the analysis of biological information using computers and statistical techniques; the science of developing and utilizing computer databases and algorithms to accelerate and enhance biological research. Bioinformatics is more of a tool than a discipline, the tools for analysis of Biological Data.
Albinism is when a living organism doesn’t have the usual amount of pigment or color.
Albinism affects all races equally.
Relation to Bioinformatics
Albinism is an inherited problem by the imperfection in one or more of the genes responsible for directing the eyes and skin to make melanin.
Albinism is mostly a recessively inherited disease which means that you have inherited two albinism genes which causes the development of the disease.
Discovery Of Albinism
Garrod first discovered albinism in 1908. It is believed that albinism has been part of Medical literature since time literature was put together.
A large number of German and Roman scholars, such as PliniusSecundus the elder have noted to describe albinism in their earliest scriptures.
Inability of the body to produce melanin pigment.
Alteration in genes for the production of melanin in the skin and eyes.
Lack of melanin in the eyes often results in problems with vision.
Genes Responsible For Albinism
There are six genes that are responsible for causing albinism:
Tyrosinase gene (TYR)
Tyrosinase-related gene (TYR1)
Albinism is located on chromosome11q14-21.
The gene associated with albinism is called OCA1 which codes for the protein tyrosinase.
is an enzyme that catalyzes the oxidation of phenols (such as tyrosine) and is widespread in plants and animals. Tyrosinase is a copper-containing enzyme present in plant and animal tissues that catalyzes the production of melanin and other pigments from tyrosine by oxidation, as in the blackening of a peeled or sliced potato exposed to air.
Burning of skin if exposed to sunlight
Very far sighted or near sighted
Constant, involuntary movement of the eyeball
Sensitive to light
Types of Albinism
Ocular Albinism- does not affect the skin or hair and affects only the eyes. It is caused by x-linked chromosomal inheritance and occurs mostly in boys.
Oculocutaneous Albinism- affects the eyes, hair and skin and includes several different subtypes.
Hermansky-Pudlak Syndrome- not a popular type of albinism but has increased among Puerto Ricans. It may involve bleeding syndrome, bruising, lung problems and intestinal disorders.
Types of Albinism
Chediak-Higashi Syndrome- not common form of albinism characterized by an abnormality in certain types of white blood cells. This type of albinism gives a lower chance for the immune system to fight off pathogens.
Griscelli Syndrome- an extremely rare type of albinism. There are only 60 known cases worldwide of this type. Giscelli Syndrome as well as the Chediak-Higashi Syndrome involves immunodeficiency and sometimes could involve neurological problems.
The goal for treatment is to relieve symptoms.
Treatment depends on the severity of the disorder.
Treatment involves protecting the skin and eyes from the sun.
To reduce sunburn a person with albinism should use sunscreen and wear clothing that covers up most of the body.
Sunscreen should have a high sun protection factor (SPF)
BLAST-Basic Local Alignment Search Tool
A computer program that identifies homologous genes in different organisms such as worms, the fruit fly, mice, and humans. Homologous genes are genes in different species that share similar structures and functions.
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