ALBINISM

By Elizama PonsDr. Thomas BrennanMrs. McMahonBronx Community College

INTRODUCTION 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 Plinius Secundus the elder have noted to describe albinism in their earliest scriptures.

CAUSES 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 ALBINISMThere are six genes that are responsible for causing albinism:• Tyrosinase gene (TYR)• OCA1 gene• OCA2 gene• OCA3 gene• Tyrosinase-related gene (TYR1)• CHS1 gene

CHROMOSOME LOCATION

Albinism is located on chromosome11q14-21. The gene associated with albinism is called

OCA1 which codes for the protein tyrosinase.

http://home.hiroshima-u.ac.jp/sugil/tyrc.JPG

TYROSINASE PROTEIN 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.

SYMPTOMS/SIGNS White hair Pale skin 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.

TREATMENT 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.

BLAST CONTINUATION

BLAST CONTINUATION

REFERENCES a b c "Albinism", by Dr. Raymond E. Boissy, Dr. James J. Nordlund, et al., at eMedicine, 22 August 2005;

retrieved 31 March 2007 a b Online Mendelian Inheritance in Man Database, at Johns Hopkins University (see also Mendelian

Inheritance in Man for more information about this source). a b c d "Facts about Albinism", by Richard King et al. "Feather Colors: What We See" by Dr. Julie Feinstein of the American Museum of Natural History (NY), in

Birder's World Magazine online archive; sourced December 2006, actual authoring/publication date unspecified.

"The Parblue Puzzle: Part 4—Common Parblue Varieties: The Cockatiel [Nymphicus hollandicus]" by Clive Hesford, The Genetics of Colour in the Budgerigar and Other Parrots, January 1998

"Amphibian Biology & Physiology: Caudata" at Amphibian Information Resource: An Educational Web Project About Amphibian Species; sourced December 2006, actual authoring/publication date unspecified.

Ilo Hiler, Albinos. Young Naturalist. The Louise Lindsey Merrick Texas Environment Series, No. 6, pp. 28-31. Texas A&M University Press, College Station (1983)

S. Dobosz, K. Kohlmann, K. Goryczko, H. Kuzminski (2000) Growth and vitality in yellow forms of rainbow trout. Journal of Applied Ichthyology 16, 117–120.

Draize, J.H., Woodard, G. & Calvery, H.O. (1944) Methods for the study of irritation and toxicity of substances applied topically to the skin and mucous membranes. J. Pharmacol. and Exp. Therapeutics. 82, 377–390.

de Brito, Marcelo F. G.; Caramaschi, Érica P. (2005). "An albino armored catfish Schizolecis guntheri (Siluriformes: Loricariidae) from an Atlantic Forest coastal basin" (PDF). Neotropical Ichthyology 3 (1): 123–125. http://www.ufrgs.br/ni/vol3num1%5CBrito%20&%20Caramaschi.pdf. 

"Albinism" by Carol A. Turkington at answers.com "ILDS - ICD10". http://web.ilds.org/icd10_list.php?VIEW=1&START_CODE=E70.3&START_EXT=14.  "Albinism: Modern molecular diagnosis" a b "Albinism - Review of Optometry Online"^ by John Lee

ACKNOWLEDGEMENTS Mentor: Dr. Brennan Co-mentor: Mrs. McMahon National Science Foundation Bronx Community College HCS Dr. Sat Erick Konadu