Mutations

Mutation: damage to genetic material A mutation is usually not beneficial. Mutagens are things that cause mutations. They include: 1. High Temperatures 2. Toxic Chemicals (pesticides, etc) 3. Radiation (nuclear and solar) 4. Microwave 5. Fruit from the store 6. Radar /cellular phone waves

TYPES OF MUTATIONS Somatic = Skin cells Germinal = Sperm or Egg This is more threatening because they can be passed to offspring (forever).

Types of mutations 3. Chromosomal: affecting whole or a part of a chromosome 4. Gene: changes to the bases in the DNA of one gene

How do you get mutations? Mutations can be inherited. Parent to child Mutations can be acquired. Environmental damage Mistakes when DNA is copied

Chromosome Mutations Chromosome 21 does not separate correctly. Down Syndrome Chromosome 21 does not separate correctly. They have 47 instead of 46 chromosomes Children with Down Syndrome develop slower, may have heart and stomach illnesses and vary greatly in their degree of intelligence.

Chromosome Mutations Cri-du-chat Deletion of material on 5th chromosome Characterized by the cat-like cry made by cri-du-chat babies Varied levels of metal handicaps

Sex Chromosome Abnormalities Klinefelter’s Syndrome XXY, XXYY, XXXY Male Sterility Small testicles Breast enlargement

Sex Chromosome Abnormalities XYY Syndrome Normal male traits Often tall and thin Associated with antisocial and behavioral problems

Sex Chromosome Mutations Turner’s Syndrome X Female sex organs don't mature at adolescence sterility short stature

Sex Chromosome Mutations XXX Trisomy X Female Little or no visible differences tall stature learning disabilities limited fertility

1. Dwarfism (achondroplasia) 2. Gigantism (acromegaly) The genes that we have covered so far affect only one phenotypic character, but most genes are pleiotropic

Acromegaly: André the Giant

Some mutations even make it on SNL!

Johnny & Edgar Winter Albinism albino Africans

Other Genetic Diseases of Interest Blue People! Progeria

Chromosomal Abnormalities Turners (XO) Kleinfelters (XXY) Down Syndrome Cri du Chat

Nondisjunction of the sex chromosomes

TURNER’S SYNDROME

KLINEFELTER’S SYNDROME

Sickle Cell

Celebrities with Sickle Cell T-Boz , Mobb Deep, Tiki Barber