& Genetic Disorders

 Show the genetic history of a family  “Genetic Family Tree“  Shows phenotypes one generation to the next  Sometimes shows genotypes from one generation to the next; and sometimes you can figure out the genotype based on your knowledge of inheritance

The Weasley Family Tree

 each generation is represented using a Roman Numeral  circles are females, squares are males  a line connecting two shapes indicated a mating  shaded in areas indicate an individual affected by the trait FF= Free hanging ears Ff= Free hanging ears ff= Attached ears Ff ff FFFf FF Ff

What do you see?

 Pedigrees tell the phenotypic/genotypic story: ◦ Who bred with who? (i.e. Any new traits introduced?) ◦ What was the relationship between relatives? (i.e. Third cousins once removed) ◦ What traits were passed on? (i.e. Hanging ears or Sickle Cell Anemia)  So who would cares?

 A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. (The University of Utah, 2013) Common Misconception Alert! Genetic disorders are all inherited. – NOT TRUE!

 Level 1: Single Gene Disorders ◦ Mutation of a single gene cause protein to be altered or deleted  Level 2: Chromosome Abnormalities ◦ Entire chromosomes or large segments are deleted, duplicated or altered  Level 3: Multifactorial Disorders ◦ Mutations in multiple genes, often coupled with environmental factors (The University of Utah, 2013)

Environmental  Stress  Diet  Physical/Mental Abuse  Drugs and Alcohol  Exposure to Radiation, Pathogens, Toxins and Chemicals  E.g. A person exposed to head injuries may be more likely to develop Alzheimer’s. Heredity  Family Medical History ◦ 1 st, 2 nd and 3 rd generation ◦ Skipped Generations ◦ Carriers  Autosomal Dominant/ Recessive  X-Linked Dominant/ Recessive  Mitochondrial (paternal mtDNA)  E.g. Huntington’s Disease is an Autosomal Dominant disease, and thus every generations will be affected by it.

 Down’s Syndrome: Trisomy 21  Klinefelter Syndrome: XXY  Turner Syndrome: XO  Fragile-X Syndrome: X-Linked Dominant ( FMR1)  Duchenne Muscular Dystrophy: X-Linked Recessive (DMD gene)  Huntington’s Disease: Autosomal Dominant (HTT gene)  Tay Sachs: Autosomal Recessive (HEXA gene)  Cystic Fibrosis: Autosomal Recessive (CFTR)  Sickle Cell: Autosomal Recessive (HBB gene)

Royal Family Pedigree (X-linked recessive)

 Autosomal Recessive  Blood Disorder  Some Symptoms: anemia, fever, chest pain, increased risk of infections, especially respiratory infections, death  wdU wdU

 Malaria: ◦ Vector-borne disease, parasites are transmitted by mosquitoes through blood ◦ Symptoms include fever, chills, flu-like illness, may cause death ◦ In 2010 an estimated 216 million cases of malaria occurred worldwide and 655,000 people died, most (91%) in the African Region (CDC, 2010)  Sickle Cell ◦ Carriers have increased resistance against malaria ◦ 60% protection against overall mortality ◦ next=1&list=PLD F378F5&feature=results_m ain next=1&list=PLD F378F5&feature=results_m ain

= Carriers of the disease= Unaffected Individuals = Affected by the Disease