Albinism
Physical anthropologists view humans as biological organisms. Coupled withgenetics and biochemistry, scientists can form a more complete picture of human anatomy, both past and present. Physical anthropology looks at human variation and evolution. Variation looks at the biological differences that exist between individuals within a population and at individuals between populations (e.g., body shape, size, and physiological responses). These differences in human biology are measured using a technique called anthropometry 1. In order to explain this diversity, physical anthropologists look to environmental conditions (including culture) and genetics. Taking these factors into account, the anthropologist attempts to formulate an evolutionary explanation for the differences.Human evolution looks at the bodily changes that have occurred over the years leading up to modern day Homo sapiens. In order to determine the changes that have taken place in human anatomy we rely on paleoanthropology, the study of human fossil remains, and primatology, and the study of other primates 1. Paleoanthropology helps us determine who our ancestors were, and when, how and why they evolved. Primatology allows us to see the similarities and differences b
There is a distinctive OCA2 phenotype in African-American and in African individuals 4. Most mutations lead to the production of tyrosinase enzyme that does not work. General health of a child and an adult with albinism is normal, and the reduction in melanin pigment in the skin, hair and the eyes should have no effect on the brain, the cardiovascular system, the lungs, the gastrointestinal tract, the genitourinary system, the musculoskeletal system, or the immune system. These mutations lead to the production of a tyrosinase enzyme that has a little activity but nowhere near the normal amount of activity (often in the range of 1-10% of normal activity). One of the two most common types of albinism is tyrosinase related OCA, produced by loss of function of the tyrosinase enzyme in the melanocyte. These genes are the P gene on chromosome 15, the Hermansky-Pudlak syndrome gene on chromosome 10, and the ocular albinism gene on the X chromosome 5. The test is useful only for families that contain individuals with albinism, and cannot be performed practically as a screening test for the general population. A small sample of blood is obtained from the affected individual and the parents as a source of DNA, the chemical that carries the 'genetic code' of each gene. (1989) The Extraordinary Story of Human Origins.
Common topics in this essay:
,
African-American African,
OCA1 Individuals,
Classical OCA,
Alterations DHICA,
Education Plan,
OCA1B OCA2,
OCA1 OCA2,
melanin pigment,
ocular albinism,
Inherited Disease,
people albinism,
skin hair,
Clin Genet,
natural selection,
tyrosinase enzyme,
skin hair eyes,
hair eyes,
tyrosinase gene,
type albinism,
copy gene,
x-linked ocular albinism,
melanin pigment skin,
melanin pigment retina,
albinism copy gene,
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