MUTATIONS
Jan 18, 2016
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