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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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slide1

Achondroplasia

Cutie dwarf!

By Stephanie Correa, Emma Rodriguez, Kylie Wiegel

dwarfism
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)
location of disorder
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!!(:

mode of inheritance
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.
alleles
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.
slide6

The Punnett Squares

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

probability
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)
what does all this mean
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)
probability in phenotypes and genotypes
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
student practice
Student Practice

Daddy’s Genes

D

d

DD

Dd

D

Mommy’s Genes

Dd

dd

d

(Genes) Genotype:

-Ratio:

-Percentage:

(Physical) Phenotype:

-Ratio:

-Percentage:

1:2:1

25% DD: 50% Dd: 25% dd

3:1

75% dwarf: 25% not dwarf

pedigree autosomal dominant
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.
student practice1
Student Practice
  • Circle=
  • Square=
  • Shaded in=
  • Not shaded in=
  • Half shaded in=

Female

Male

I

Bad Gene

Steph

Brad Pitt

Good Gene

II

Half bad half good gene

Dasia

Jeff

Ventura

Emma

Jenn

Matt

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?

Gabby

Josue

Jess

Vivek

Yvenson

Janice

Gabi

Lorena

Matthew

Steffy

Luke

Kylie

Autosomal Dominant