Transcript Albinism - Harlem Children Society

ALBINISM
By Elizama Pons
Dr. Thomas Brennan
Mrs. McMahon
Bronx 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.
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RELATION TO BIOINFORMATICS
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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
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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)
•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.
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http://home.hiroshimau.ac.jp/sugil/tyrc.JPG
TYROSINASE PROTEIN
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is an enzyme that catalyzes the oxidation of
phenols (such as tyrosine) and is widespread in
plants and animals. Tyrosinase is a coppercontaining 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
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TYPES OF ALBINISM
Ocular Albinism- does not affect the skin or
hair and affects only the eyes. It is caused by xlinked 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.
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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.
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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)
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BLAST-BASIC LOCAL ALIGNMENT SEARCH TOOL
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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
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"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
"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
a b c d
"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. 2831. 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
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