6Tay-Sachs DiseaseA genetically caused disease in which the gene to make the enzyme Hex-A (Hexosaminidase A) is not working.Hex-A is an enzyme that breaks down the lipid GM2 ganglioside.Without Hex-A this lipid accumulates on nerve cells, specifically in the brain causing severe brain damage.Victims of this disorder do not live past age 5
9Common in Eastern European Ashkenazi Jews This is a group of people descendent of medieval Jews from the Rhineland area. (Rhineland: near the river Rhine in Germany)
10Cystic Fibrosis 7q31 Thick mucus is produced by the body Mucus fills lungs causing lung infectionsMucus blocks pancreas which causes digestive problemsMucus can block bile ducts in liver causing liver failure.
17Huntington’s DiseaseGenetically programmed degeneration of brain cells.Mood swings, loss of muscle control, loss of memory and inability to learn, death.hh = NormalHH or Hh = will get and die of this disease
18Person with Huntington’s and a person without Huntington’s Hh x hhOffspring:50% Huntington’s50% Normal
415 With color vision you see this: But if you were red-green colorblind….You would see the #:5
42What do the colorblind see? Types of ColorblindnessNORMALPROTAN:Red BlindDEUTERAN:Green BlindTRITAN:Blue BlindREDYELLOWGREENCYANBLUEMAGENTA
43Types of Colorblindness – NormalNo color visionProtanopia: no redDeuteranopia: no greenTritanopia: no blue
44HemophiliaA genetic sex linked gene that affects the way your blood clots. (affects clotting factor VIII and IX)Small cuts, scrapes and bruises can be life threatening1 in 10, 000 males1 in 100,000,000 females
479 2 1 no yes 10 i. How many kids did Victoria have? ________ ii. How many kids were carriers?________ # of kids effected? __________iii. Were any girls affected by the disorder?______ Boys? _____ How many?_____21noyes10
59What is Turner syndrome? Turner syndrome describes females who have a common constellation of problems because they are missing all or part of an X chromosome.Some will have few, if any, noticeable problems, while others may have many.Some of these problems include:short staturelymphedema (a collection of lymph fluid in the tissues; often causing puffiness of the hands and feet in newborns)gonadal failure (resulting in delayed or absent sexual development, infertility)frequent ear infectionsprogressive nerve hearing lossstrabismus (wandering or crossed eye)unusual physical features such as a narrow palate, receding jaw, webbed neck, low hairline, prominent ears, broad chest, and narrow fingernails and toenails that point upwardsstructural abnormalities of the heart and/or the aorta (the main vessel carrying blood away from the heart)structural abnormalities of the kidneyshypothyroidismmultiple molesnon-verbal learning disability
61Patiño is considered by science as an “androgen insensitive Patiño is considered by science as an “androgen insensitive.” A fetus of this class develops testes on the eighth week, but the “androgen receptors” are faulty and thus fail to detect the presence of male hormones, even if these are present in the body. In the end, the child is delivered as a girl. Her breasts may enlarge at puberty but she will never menstruate, as her uterus has not developed.Approximately one of every 20,000 persons is an androgen insensitive. And about one of every 2,500 females has a single X chromosome. The XY woman, as I shall distinguish her, is actually no different from the XX woman—well, other than she will not physically bear children. There are even a significant number of Western XY women who are into the modeling profession.In this new millennium, we must encourage a deeper learning about what determines our gender. A healthy discussion and research on this will aid us in the compassionate understanding of our diversities. Myths that surround gender expression must be set straight all together in the light of scientific explanations. Only by welcoming such evolution in popular beliefs will we be liberated from social condescension.