Albinism Power Pointx - Harlem Children Society

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Oct 4, 2013 (3 years and 10 months ago)

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A
LBINISM

By
Elizama

Pons

Dr. Thomas Brennan

Mrs. McMahon

Bronx Community College




I
NTRODUCTION


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.








R
ELATION

TO

B
IOINFORMATICS


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.



D
ISCOVERY

O
F

A
LBINISM


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.

C
AUSES


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.

G
ENES

R
ESPONSIBLE

F
OR

A
LBINISM

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


C
HROMOSOME

L
OCATION



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

T
YROSINASE

P
ROTEIN


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.

S
YMPTOMS
/S
IGNS


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

T
YPES

OF

A
LBINISM


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.

T
YPES

OF

A
LBINISM


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.

T
REATMENT


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
-
B
ASIC

L
OCAL

A
LIGNMENT

S
EARCH

T
OOL



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.

B
LAST

C
ONTINUATION

B
LAST

C
ONTINUATION


R
EFERENCES


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





A
CKNOWLEDGEMENTS



Mentor: Dr. Brennan


Co
-
mentor: Mrs. McMahon


National Science Foundation


Bronx Community College


HCS


Dr. Sat


Erick
Konadu