GeneticDisorders-SandersBiologyStuff.pptVIP

Genetic Disorders Inherited in different ways Gene mutations Autosomal / Sex-linked Dominant / recessive/ codominant Chromosomal mutations Too many- trisomy Too few- monosomy Deletions of large portions of the chromosome Autosomal Recessive Lack of enzyme hexosaminidase A (hex A), which breaks down fatty acids in brain in nervous tissue Symptoms begin to appear at 4-6 months Developmental delay, loss of motor skills and mental functions, blindness, deafness, paralysis, non-responsive to the environment Death by 5 years Found primarily in those descendants of Ashkenazi Jews 1/30 American Jews carry the gene Autosomal recessive- Chromosome #7 - Point mutation stops production of a protein in the lungs and pancreas Prevents cells from transporting Cl- ions out of the cell Lung Congestion Abnormally thick mucus lining in lungs Chronic Bacterial Infections (pneumonia) Treated with antibiotics, lung transplant, and new genetic engineering treatments Northern European descent Albinism Autosomal recessive On one of many genes controlling pigment production Lack of pigment in the skin, hair, and eyes Autosomal recessive- Chromosome #12 Do not contain enzyme phenylalanine hydroxlyase (PAH) that breaks down amino acid phenylalanine into amino acid tyrosine Phenylalanine builds up in brain Toxic to central nervous system (CNS) Learning Difficulties, seizures Tested at birth PKU – 1/10,000 U.S. ? 1/50 carry PKU allele Regulated by Strict diet Low protein: no meat, eggs, dairy No Aspartame: sugar substitute sold as Equal or NutraSweet Contains amino acid phenylalanine – 50% Achondroplasia Autosomal dominant 1 of 6 kinds of Dwarfism (each has different characteristics Normal torso length with shortened limbs Most common form of dwarfism Homozygous dominant zygotes will miscarry Autosomal Dominant- chromosome #4 Lethal due to degeneration of brain cells Symptoms onset around ages 35-50 Lose control over muscles causing uncontrolled movements, loss of intellectual faculties