1 / 12

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

tam
Télécharger la présentation

Achondroplasia

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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?

More Related