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Achondroplasia

Achondroplasia. Cutie dwarf!. By Stephanie Correa, Emma Rodriguez, Kylie Wiegel. Dwarfism . A genetic disorder that affects bone growth. Some characteristics include: - a long narrow torso - short limbs - unusually flexible limbs - limited rotation of the elbows and hips

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Achondroplasia

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  1. Achondroplasia Cutie dwarf! By Stephanie Correa, Emma Rodriguez, Kylie Wiegel

  2. Dwarfism • A genetic disorder that affects bone growth. • Some characteristics include: • - a long narrow torso • - short limbs • - unusually flexible limbs • - limited rotation of the elbows and hips • - a small hump on the mid to lower back (it goes away later in life) • - big head (because of the enlarged brain)

  3. Location of Disorder: • On the short arm of Chromosome four • Proteins are coded for here. These proteins are for growth (fibroblast growth factor receptor 3) Right there!!(:

  4. Mode of Inheritance • 80% of documented cases are not inherited. They are simply a new mutation to Chromosome 4. • The other 20% is inherited from the parents. • If one parent has Achondroplasia, the chances of the offspring getting it is 50% • If both parents have, Achondroplasia, the chances of the offspring having it is a 50% of the child having Achondroplasia a 25% of the child being normal, and a 25% chance of the child having homozygous Achondroplasia. • This is when the gene comes from both the parents.

  5. Alleles • You get one allele from your mommy and one allele from your daddy. • they come from the sex cells. (ova and sperm) • Our alleles are D (dominant) and d (recessive). • Dominant: always overpowers the recessive gene • Recessive: you get the this gene only when there is no dominant allele present.

  6. TehPunnettSquarezz Daddy D d Daddy d d Mommy D d Mommy D d Homozygous recessive Homozygous dominant Heterozygous dominant Daddy d d Daddy D D Mommy d d Mommy D D

  7. Probability • Ratio and Percentage- • 1:2:1 or 25%:50%:25% • (Homozygous dominant: Heterozygous dominant: Homozygous recessive) • 1:3 or 25%:75% • (Heterozygous dominant: Homozygous recessive) • 4 or 100% • (All Homozygous recessive) • 4 or 100% • (All Homozygous dominant)

  8. What Does all This Mean? • A capital D means that the gene is dominant and a lower case d means it is recessive. • Phenotype: • DD- a person with this gene will be a dwarf. So, you will see a person 4’10” and under. • Dd(x2)- a person with this gene will also be a dwarf. • dd- a person with this gene will not be a dwarf. They will live normal lives. • Genotype: • DD- Homozygous dominant(a dwarf) • Dd(x2)- Heterozygous dominant(a dwarf) • dd- Homozygous recessive(not a dwarf)

  9. Probability in Phenotypes and Genotypes • Phenotype: • Ratio- 3 dwarf: 1 not dwarf • Percentage- 75% dwarf: 25% not dwarf • Genotype: • Ratio- 1DD: 2 Dd: 1dd • Percentage- 25% DD: 50% Dd: 25% dd

  10. NOTE TO STEPH: The custom animation on already is for the student practice answers. It needs to go last. I put it there just incase you forgot to(: Student Practice Daddy’s Genes DD Dd Mommy’s Genes Dd dd Genotype: -Ratio: -Percentage: Phenotype: -Ratio: -Percentage: 1:2:1 25% DD: 50% Dd: 25% dd 3:1 75% dwarf: 25% not dwarf

  11. Pedigree- Autosomal Dominant • Circle = female • Square = male • All White= homozygous recessive gene: a person has 2 “healthy” genes • All Green= homozygous dominant: this person has achondroplasia(2 “bad” genes. • Half Green/Half White= person has achondroplasia. The dominant gene takes over. Half “good” gene and half “bad” gene.

  12. NOTE TO STEPH: The custom animation that is already on needs to be the last one. It’s for the question(: Student Practice • Circle= • Square= • Shaded in= • Not shaded in= • Half shaded in= I II III What do you think will be in the next generation? What would happen if both of the starting parents had the “bad” gene? What type of pedigree is this?

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