Albinism! :D

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Albinism! D

• Partial hypomelanosis
• Total amelanism or amelanosis

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Cause?

• The principal gene which results in albinism
  prevents the body from making the usual amounts
  of the pigment melanin.
• melanin- found in plantsanimals. They are
  derivatives of the amino acid tyrosine

OPPOSITE Melanism- increased amount of dark
pigmentation
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• Albinism appears in different forms and may be
  inherited by one of several modes autosomal
  recessive, autosomal dominant, or X-linked.
• This figure shows the coding region of the MATP
  gene (530 amino acids). The red is the coding
  region and the yellow boxes are the putative
  transmembrane regions. Missense mutations are on
  the top and nonsense, frameshift and splice site
  mutations are on the bottom.
• GenBank Accession for mRNA sequence (AF172849).

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2 Types!

• oculocutaneous albinism 4 types
• A form of albinism involving the eyes ("oculo-"),
  skin ("-cutaneous"), and the hair as well.
• ocular albinism
• is a form of albinism which, in contrast to
  oculocutaneous albinism, presents primarily in
  the eyes.

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Albinism

• Humans with albinism commonly have vision
  problems and need sun protection..
• Tanzia http//news.bbc.co.uk/2/hi/africa/7518049.s
  tm

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• Tyrosinase Related Protein-1 Gene
• Mutations Associated with Oculocutaneous Albinism
  type 3

This figure shows the coding region of the
tyrosinase related protein-1 gene (537 amino
acids). Light blue is the signal peptide, green
is the putative metal ion binding regions, orange
is the transmembrane region. White circles are
the location of cystein residues and the EGF is a
epidermal growth factor-like region. Missense
mutations are on the top and nonsense, frameshift
and splice site mutations are on the bottom.
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Frequency

• Albinism usually occurs with equal frequency in
  both genders. An exception to this is ocular
  albinism, because it is passed on to offspring
  through X-linked inheritance. Thus, males more
  frequently have ocular albinism as they do not
  have a second X chromosome.
• Those with oculocutaneous albinism may experience
  abnormal flickering eye movements (nystagmus) and
  sensitivity to bright light. There may be other
  eye problems as well, including poor vision and
  crossed or "lazy" eyes (strabismus).
• About 1 in 17,000 human beings has some type of
  albinism, although up to 1 in 70 is a carrier of
  albinism genes

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Phenotypes!

• Animals with albinism occasionally have red eyes
  due to the retinal blood vessels showing through
  from under the eye. (not enough pigment)
• However red eyes for humans are rare. The human
  eye is quite large and thus produces enough
  pigment to lend opacity to the eye. So, the iris
  pale blue. However, there are cases in which the
  eyes of an albinistic person appear red or
  purple, depending on the amount of pigment
  present.

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Works Cited!

• "Albinism." Wikipedia. N.p., 12 Nov. 2009. Web.
  12 Nov. 2009. lthttp//en.wikipedia.org/wiki/
  Albinogt.
• Alan, Rick. "Albinism." Aurora Health Care. N.p.,
  12 Nov. 2009. Web. 12 Nov. 2009.
  lthttp//www.aurorahealthcare.org/yourhealth/healt
  hgate/ getcontent.asp?URLhealthgate2222573.html
  22gt.
• "Welcome to the Albinism Database." Albinism
  Database. University of Minnesota, n.d. Web. 12
  Nov. 2009. lthttp//albinism.med.umn.edu/gt.
• Oculocutaneous Albinism." Wikipedia. N.p., 12
  Nov. 2009. Web. 12 Nov. 2009. lthttp//en.wikipedia
  .org/wiki/Oculocutaneous_albinismgt.
• "Living in fear Tanzania's albinos." BBC News.
  N.p., 21 July 2008. Web. 12 Nov. 2009.
  lthttp//news.bbc.co.uk/2/hi/africa/7518049.stmgt.
  
• "Albinism." Answers. N.p., 12 Nov. 2009. Web. 12
  Nov. 2009. lthttp//www.answers.com/topic/
  becker-s-muscular-dystrophygt.