MUTATIONS

Mutations

• Can be beneficial, harmful, neutral• Primary source of genetic variation

Environmental Causes of Mutations

• X-rays• UV rays• Chemicals

DNA has repair mechanisms to minimize mutations

Mutated Genes and their products

Changes in Chromosome Structure

Changes in Chromosome Number

Karyotypes show changes in Chromosome #

Down syndrome is a learning disability where chromosome 21 is duplicated 3 times.

Cri Du Chat is a cat cry where chromosome 5 is not lined up

Klinefelter Syndrome is where sperm is barely produced and the chromosome is not lined up.

Turner syndrome is where the woman is not grown all the way, it is caused by a missing chromosome.

Sickle Cell and Natural Selection

Pedigree Autosomal Dominant

PEDIGREES: Autosomal recessive

PedigreeX linked Recessive

X linked Dominant

Autosomal Dominant Inheritance

• Achondroplasia• Huntington’s Disease• Hutchinson-Guilford progeria

Autosomal Recessive

• Albinism• Tay-Sach’s Disease

Genetic Screening

• Newborn screening• Pre-pregnancy• Pre-Natal• Pre-implantation