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Albinism! :D

Albinism! :D. Partial : hypomelanosis Total: amelanism or amelanosis. Cause?. The principal gene which results in albinism prevents the body from making the usual amounts of the pigment melanin . melanin - found in plants&animals. They are derivatives of the amino acid tyrosine .

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Albinism! :D

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  1. Albinism! :D Partial : hypomelanosis Total: amelanism or amelanosis

  2. Cause? The principal gene which results in albinism prevents the body from making the usual amounts of the pigment melanin. melanin- found in plants&animals. They are derivatives of the amino acid tyrosine OPPOSITE: Melanism- increased amount of dark pigmentation

  3. 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).

  4. 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.

  5. Albinism Humans with albinism commonly have vision problems and need sun protection.. Tanzia http://news.bbc.co.uk/2/hi/africa/7518049.stm

  6. 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.

  7. 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

  8. 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.

  9. Works Cited! "Albinism." Wikipedia. N.p., 12 Nov. 2009. Web. 12 Nov. 2009. <http://en.wikipedia.org/wiki/ Albino>. Alan, Rick. "Albinism." Aurora Health Care. N.p., 12 Nov. 2009. Web. 12 Nov. 2009. <http://www.aurorahealthcare.org/yourhealth/healthgate/ getcontent.asp?URLhealthgate=%2222573.html%22>. "Welcome to the Albinism Database." Albinism Database. University of Minnesota, n.d. Web. 12 Nov. 2009. <http://albinism.med.umn.edu/>. “Oculocutaneous Albinism." Wikipedia. N.p., 12 Nov. 2009. Web. 12 Nov. 2009. <http://en.wikipedia.org/wiki/Oculocutaneous_albinism>. "Living in fear: Tanzania's albinos." BBC News. N.p., 21 July 2008. Web. 12 Nov. 2009. <http://news.bbc.co.uk/2/hi/africa/7518049.stm>. "Albinism." Answers. N.p., 12 Nov. 2009. Web. 12 Nov. 2009. <http://www.answers.com/topic/ becker-s-muscular-dystrophy>.

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