Genetic Inheritance Session 22 Flashcards
How does the distance between locus in a chromosome pair effect the frequency of alleles distribution ?
- The bigger the distance , the higher the probability of a recombination
describe both autosomal recessive and dominant genetic disorders
- Autosomal recessive genetic disorder ; only aa will have the disorder
- Autosomal dominant genetic disorder : AA or Aa will have the disorder
What is a Pedigree used for ?
- To determine whether a condition is dominant or recessive
Describe the legend of a pedigree
- Males are squares, females are circles.
- Shaded are affected individuals.
- A horizontal line between a square and a circle represents a
mating. - A vertical line going downward leads to offspring.
Tay-Sach disease :
- Who does it occur among
- Why does it occur
- What does it cause
- What is the cure
- it occurs among ashkenazic jewish people and their descendants
- results from a lack of lysosome enzyme , hex A, which helps to clear out fatty acid proteins in the brain
- Causes blindness , seizures and paralysis
- there is no cure and the affected children pass away by age 5
Cystic Fibrosis disease :
- Who does it occur among
- Why does it occur
- What does it cause
- What is the cure
- Occur among Caucasians
- caused by a defective chloride channel that is encoded by the cystic fibrosis conductance transmembrane regulator (CFTR) allele on chromosome 7
- it results in the chloride ions not being able to pass through the defective CFTR chloride channel , which can lead to thick mucus to form in the bronchial tubes and pancreatic ducts
- Treatments include : Antibiotics , anti-inflammatory medicines ,
Bronchodilators , CFTR modulators and Mucus Thinners
Sickle Cell disease :
- Who does it occur among
- Why does it occur
- What does it cause
- What is the cure
- it is prevalent among African Americans
- caused by abnormal hemoglobin (S) that differs by only one amino acid
- It causes red blood cells to be sickle shaped and stops them from passing through narrow capillaries which then vlog the vessels, which can cause anemia , tissue damage , jaundice , joint pain and gallstones\
- Treatment includes blood infusion and bone marrow transplants
Name some autosomal recessive disorders
- Sickle cell disease
- Cystic Fibrosis Disease
- Tay-Sach disease
Name some Autosomal dominant disorders
- Marfan syndrome
- Huntingtons disease
Marfan syndrome:
- What is it caused by
- What are some symptoms
- What is the cure
- it is caused by defect in the production of an elastic connective tissue protein called fibrillin .
- Symptoms include a dislocated lens , long limbs and fingers , a caved in chest and weakened wall of the aorta
- Treatments include beta blockers to control the cardiovascular symptoms
Huntington disease
- What does it do
- what is it caused by
- It is progressive degeneration of brain cells
- caused by a mutation of the protein Huntingtin
