10: Introduction to Genetics Flashcards
Gregor Mendel’s 3 Laws: Law of Dominance
Some alleles are dominant and cover up recessive alleles
Gregor Mendel’s 3 Laws: Law of Segregation
An organism has two alleles for each gene, but they can only pass on one
Gregor Mendel’s 3 Laws: Law of Independent Assortment
Genes found on separate chromosomes are inherited independently of each other
Alleles
- Different versions of the same gene
- Inherit one from each parent
Diploid
- Most cells
- Two copies of each chromosome
Haploid
- Gametes
- Only one copy of each chromosome
Genetic Recombination
- Creates different combinations of genetic information from parents
- Crossing over during meiosis
Causes of Mutation: Spontaneous
Incorrect DNA replication mechanism
Causes of Mutation: Induced
- UV and ionising radiation
- Carcinogens e.g. chemicals, cigarettes
- Viruses
- Free radicals
Chromosomal Mutation: Translocation
- Movement of DNA segments - transposition
- Cut and paste
Chromosomal Mutation: Aneuploidy
- Incorrect numbers of chromosomes in cells
- Monosomy or trisomy
- Most commonly caused by nondisjunction during meiosis
Down Syndrome Characteristics (TRISOMY)
- Characteristically short
- Round heads/flat faces
- Furrowed tongue causing permanent partially opened mouth
- Retarded physical, mental and psychomotor skills
- Prone to respiratory disease
Turner Syndrome Characteristics (MONOSOMY)
- Female appearance but unusually short – less than 5 ft
- Female sex organs but only partially developed ovaries – usually sterile
- Skin flaps evident on the back of the neck
- Broad chest and underdeveloped breasts
- Lymphedema
- Cubitus valgus
Consanguinity
- Mating with close relative AKA inbreeding
- Increases the probability of inheriting recessive disorders – relatives share similar alleles
- Non-relative is unlikely to have the recessive allele