PPT-Albinism

By Caelan Dean amp Tristan Hoskinson What is albinism Albinism is an inherited condition that is present at birth Albinos are recognized by the lack of color in their skin hair and eyes Various types . There is an exception with one type of ocular albinism which is passed on from mothers to sons Albinism occurs when there is a mutation in one of several genes These genes provide chemically coded instructions for making proteins involved in the pro Peo ple with albinism have absent or reduced pigment in their eyes skin or hair T hey have inherited genes that do not make the usual amounts of a pigment called melanin which is essential for the full development of the retina Lack of mela nin in d A Genetic Disorder. Gabby Badurek . and Stef . Amedrano . Period 6/7. About Albinism. Albinism is a disorder that affects the skin, hair, and eyes.. The hair, eyes, and skin usually have no pigment(color).. 2. Visual acuity in albinism A word on visual acuity: I believe in England visual acuity is given in feet, 20/200 etc. In Germany we range visual acuity in ranges from 0,0 t0 1,0 or in percent, 1.0 or v. icky. s. . wang. What is it?. Albinism is a defect of . melanin production . that results in little or . no color . (pigment) in . the . skin, hair, and eyes. .. Melanin . is a . skin pigment (substance that gives the skin its color). Dark-. I can explain how sex (gender) is determined in humans.. I can predict what features a child might inherit.. How many chromosomes do humans have?. 46…or 23 homologous pairs. 23 from . Mom . and 23 from . Making melanin pigment. The . TYR. gene is just one of many genes on the human number-11 chromosome. . The . TYR. gene encodes a protein that functions as the enzyme, . tyrosinase. . This enzyme catalyses a step in the pathway that produces the pigment, . Richard D. Howells, PhD. Dental Biochemistry Lecture 25 . 2. Learning Objectives. To distinguish between phenylketonuria (PKU) caused by phenylalanine hydroxylase (PAH) defect and PKU caused by defect in . Assume the trait is controlled by simple dominance.. What are the genotypes of the two parents?. Do both parents show the dominant phenotype? . List the expected genotypes of the offspring.. List the expected phenotype of the offspring.. Huntingtons. Disease is:. A. Dominant. B. Recessive. C. Sex Linked Recessive. D. Sex Linked Dominant. QUESTION 2. Achondroplasia. is:. A. Dominant. B. Recessive. C. Sex Linked Recessive. D. Sex Linked Dominant. VBC-607. Unit-1. P.G.. 6.11.2020. MAPLE SYRUP URINE DISEASE. Also known as Branched chain ketonuria. Partial or complete deficiency of branched-chain . α . keto acid dehydrogenase (a multienzyme complex associated with inner membrane of mitochondrion). Erbil. Collage . of . Education. Department of . Chemistry . Alkaptonuria. , Albinism, Phenylketonuria . Diseases. Prepared. . By. :. . Supervised. . By:. Sunds. Safar . Hussen. . HEMOPHILIA. DWARFISM. WHAT DO THEY HAVE IN COMMON?. THEY ARE GENETIC DISEASES (DISORDERS). http://radiopaedia.org/. https://commons.wikimedia.org. https://commons.wikimedia.org. http://discovermagazine.com/. Learning Goal . Identify the type of change in DNA for a point mutation, a deletion mutation, and an insertion mutation. . Genetic Mutation. A. . mutation. is a change in the nucleotide sequence of DNA..