Presentation on theme: "List at least 3 genetic conditions you know of. Why do you think they are genetic conditions?"— Presentation transcript:
List at least 3 genetic conditions you know of. Why do you think they are genetic conditions?
What are genetic Diseases? A genetic disease is any disease that is caused by an abnormality in an individual's genome. Can range from small mutations in a single base to huge chromosome abnormality such as extra or missing chromosomes Some are inherited others are caused by acquired mutations
Categorizing Genetic Conditions If we categorize genetic conditions by the way they are inherited there are 5 main types: Autosomal Dominant Autosomal Recessive Sex-Linked Codominant Mitochondrial
Autosomal dominant One mutated copy of the gene is enough for a person to be affected by an autosomal dominant disorder. Autosomal dominant disorders tend to occur in every generation of an affected family. Example: Huntington disease
Autosomal recessive Two mutated copies of the gene are present in a person has an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene Typically not seen in every generation of an affected family. Example: Sickle cell Disease
Sex-linked Includes X- linked dominant and recessive conditions Affected gene is on sex chromosome. Usually affects one gender more than the other Example: Color Blindness
Codominant Two different versions (alleles) of a gene can be expressed, and each version makes a slightly different protein. Both alleles influence the genetic trait or determine the characteristics of the genetic condition Example: ABO blood group, alpha-1 antitrypsin deficiency
Mitochondrial Also known as maternal inheritance. Applies to genes in mitochondrial DNA. Only females can pass on mitochondrial mutations to their children Can show up in every generation of a family Affect both males and females
Identify the following diseases by how they are inherited. Just write down the number of the condition and the type of condition
1. Tay-Sachs Disease (chromosome 15) Progressive nervous system degeneration. A child is deaf and blind by one or two years- progressive mental retardation, loss of muscular control; usually die at age three or four. Most carriers choose to avoid the birth of a child because there is no treatment. Both Parents need to pass on the gene for the child to have the condition.
2. Amyotrophic lateral sclerosis (ALS, Lou Gehrig=s disease) (chromosome 21) Affects 1 in 100,000 people worldwide, but only 10% of the cases are inherited. The other 90% are probably environmentally induced (don=t know cause). Fatal degenerative nerve disease. Stiffening and weakening of the legs and arms, become quadriplegic, die as respiratory muscles become paralyzed. One copy of the gene is enough to have the condition
3. Androgenic alopecia (AKA) Male Pattern Baldness Classic androgenic hair loss in males begins above the temples and vertex of the scalp. As it progresses, a rim of hair at the sides and rear of the head remains. The gene responsible is on the X chromosome Affects males more than Females because Females need 2 copies of the gene to show symptoms'
4. Leber hereditary optic neuropathy? Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. Can only be passed down by mothers Gene responsible is found in the mitochondria
5. Alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice). Two different versions of the gene may be active (expressed), and both versions contribute to the genetic trait.
Answers 1. Autosomal Recessive 2. Autosomal Dominant 3. Sex Linked 4. Maternal or Mitochondrial 5. Codominant