Mon and Tues 4-20 and 4-21 HBio

Journal
Notes on pedigrees and misc items so you could finish your HW packets
pedigree worksheet that was turned it at class end

HW packets due next class
Please see below info for disease info that may be helpful for your test...some of these are in your books!


•Tay-Sachs Disease
–Progressive deterioration of psychomotor functions due to lacking hex A enzyme and the ability to store it’s lipid substrate
–Causes build up of lipids in the brain
–1:3,600 Jewish have the disorder
–Developing symptoms 4-8mths old
–Child gradually becomes blind and helpless, seizures, paralyzed
–Death by age 3 – 4 No cure


•Cystic Fibrosis
–Mucus in bronchial tubes and pancreatic ducts is particularly thick and viscous due to lack of water due to the NaCl pump not working.
–Most common lethal genetic disorders among Caucasians
–1:20 Caucasians is a carrier
–1:3,000 newborns have disorder
–Clogged pancreatic ducts do not allow digestive enzymes to reach stomach so apple sauce mixed with digestive enzymes is taken before every meal
–Die by age 37
–Have isolated gene on chromosome #7


•Phenylketonuria (PKU)
–Lack enzyme for normal metabolism of phenylalanine which effects nervous system development
•Need to change aa (phenylalanine) into another aa (tyrosine)
–Gene on Chromosome #12
–Lack enzyme needed to break down the amino acid PKU
–PKU accumulates in the urine
–Tested at birth, placed on low PKU diet until brain is developed…age 7 some for lifePregnant woman must be on low PKU diet to protect unborn baby


•Neurofibromatosis
–Tan or dark spots develop on skin and darken. Small, benign tumors may arise from fibrous nerve coverings
–Equal among all ethnic groups
–Many children with the disorder have hyperactivity and learning disabilities
–Chromosome # 17


•Huntington Disease
–Neurological disorder leading to progressive degeneration of brain cells, in turn causing severe muscle spasms and personality disorders
–1:20,000 people are affected with a mutation of the gene on chromo 4
–The huntington protein has too many copies of AA Glutamine in the protein
–Normal is 10-25 glutamines long
–Affected have a protein with 36+ glutamines
•Changes shape and forms large clumps in nervous system and causes other proteins to clump to it
–Unaffected until middle age
–There is a test, would you want to be tested?