Genetic Disorders & Diseases

Mutations

Genetic disorders/diseases are caused by ____.

Mutation

is any type of change in genetic material.

1. Radiation

2. Chemicals

Mutations are caused by:

Radiation

• X-rays, sun exposure

Chemicals

• May contain toxic substances

Mutations

You can pass on mutations to your offspring only if the mutation is in your sex cells.

Mutations

•Mutations in your body cells can be passed on to other cells of your body only.

Mutations

Whole chromosomes are missing OR there are extra chromosomes

Mutations

• This is caused by disjunction which happens during meiosis when chromosomes did not segregate or separate and distribute to the gametes property.

Monosomy

One chromosome is missing

Trisomy

Extra chromosomes

Trisomy 21 - Down's Syndrome

Extra copy of chromosome 21

Trisomy 13

• Chromosomal condition that is associated with severe mental retardation and certain physical abnormalities.

Turner's Syndrome

• one sex chromosome

• Underdeveloped sex characteristics

Kleinfelter's Syndrome

• 2 XX's 1 Y

• Underdeveloped sex organs

1. Invertion

2. Insertion

3. Duplication

4. Deletion

Types of Mutations:

Genetic Disorders

• can also be caused by recessive defective alleles:

• Each parent carries 1 recessive allele. Offspring may inherit the defective allele from both parents and get the disease

1. Sickle Cell

2. Phenylketonuria

3. Tay-Sachs

4. Cystic Fibrosis

5. Huntington’s disease

Genetic Disorders:

Phenylketonuria - PKU

• Most children are screened at birth for PKU

• Can lead to mental retardation

• Smaller than normal head

• Epilepsy

Huntington’s Disease

• dominant disease, you need to inherit only 1 copy of the disease to have It. Abnormal protein is produced and you start to kill brain tissue occurs around middle age, mood swings, paralysis, loss of memory, uncontrolled movements and eventually death

Cystic Fibrosis

• recessive disorder, a genetic mutation stops
  "the production on a protein of cells in the lung, pancreas or other organ

Tay-Sachs or Thalassemia

a rare, fatal genetic disorder that destroys nerve cells in the brain and spinal cord, featuring infantile, juvenile, and late-onset forms with