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GENETIC DISORDERS. MIGUEL URBINO & JAZZ RANDALL PERIOD 3. TAY-SACHS DISEASE. PLEASE KEEP IN MIND. OTHER PEOPLE MAY Have THIS DISEASE AND BE RESPECTFUL WHEN REACTING . SUMMARY. Very rare This disorder is inherited It destroys the nerve cells in your brain and spinal cord
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GENETIC DISORDERS MIGUEL URBINO & JAZZ RANDALL PERIOD 3 TAY-SACHS DISEASE
PLEASE KEEP IN MIND OTHER PEOPLE MAY Have THIS DISEASE AND BE RESPECTFUL WHEN REACTING
SUMMARY • Very rare • This disorder is inherited • It destroys the nerve cells in your brain and spinal cord • Recessive gene • Mostly occurs in infants • Survival rate is up to 3 to 4 years of age
INFANTS • Lose their motor skill ability such as turning over, sitting, and crawling • Exaggerated startled reactions to loud noises • Not easily noticed at first • Go through seizures, vision and hearing loss, intellectual disability, and paralysis
CHROMOSOME 15 The HEXA- Chromosome 15Tay Sachs is caused by mutations in the HEXA gene
MODE OF INHERITANCE How would one acquire Tay Sachs? -if the parents of an offspring are both a carrier of the disease then you get full Tay Sachs • What does sex linked/x-linked, autosomal recessive or autosomal dominant mean? - If a disease is autosomal dominant, it means you only need to get the gene from one parent in order for you to inherit the disease. - An autosomal recessive disorder means two copies of the gene must be shown in order for you to inherit the disease or trait. - Sex-linked means that a single gene on the X chromosome can cause the disease. This can happen in boys and girls but in the case of males they may not survive.
ALLELES • An allele is an alternative form of a gene that is located at a specific position on a specific chromosome • 2/per gene • They come from our parents whether they carry the trait or not • Recessive= r Dominate= R • Dominant means you are more likely to inherit something from your parents • Recessive means you can inherit it from your parents but it is a less likelihood you will
Ratios: 1 : 2 : 1 1TT : 2Tt : 1t ANALYZING PUNNETT SQUARES Percentages: 25% : 50% : 25% 25%TT : 50%Tt : 25%t
ANALYZING PUNNETT SQUARES (CONTINUED) What do the letters mean? Phenotype: (Physical Color)TT= Red Tt = Yellow tt = Green Genotype: TT = Homozygous Dominant Tt = Heterozygous Dominant tt = homozygous recessive
ANALYZING PUNNETT SQUARES (CONTINUED) Genotype and Phenotype Phenotype: (Physical Color)Ratios- 1 Red : 2 Yellow : 1 Green Percentages- 25% Red : 50% Yellow : 25% Green Genotype: Ratios- 1 TT : 2 Tt : 1 tt Percentages- 25% TT : 50% Tt : 25% tt
PRACTICE PUNNETT PROBLEMS PHENOTYPE:Ratio- Percentages- GENOTYPE: Ratio- Percentages-
3 GENERATIONHYPOTHETICAL PEDIGREE LEGEND: • Square = Male • Circle = Female • Red = TT • Yellow = Tt • Green = tt
PEDIGREE PRACTICE LEGEND: • Square = • Circle = • Shaded = • Half Shaded = • Not Shaded = ANALYZING PEDIGREES • Read the Questions CAREFULLY • Is it possible for a TT and Tt to have a tt off-spring? • Is it possible for a Tt and Tt to have a TT off-spring? • Is it possible for a tt and TT to have a TT off-spring?
THANK YOU FOR YOURATTENTION AND COOPERATION MIGUEL URBINO & JAZZ RANDALL PERIOD 3