Mutations and Human Genetics Flashcards
Homologous pair has three members
Trisomy
Tumor that does not spread to other tissues
Benign
Individuals not expressing a genetic trait, but can pass it on to next generation.
Carrier
Tumor that can invade other tissue
Malignant
Inheritance pattern that is expressed in degrees of variation
Polygenic
Mutation affecting a single nucleotide
Point
Cancer-causing agent
Carcingeon
Single nucleotide is replaced by another
Substitution
Gene that can cause cancer
Oncogene
mutation affecting body cells
Somatic Cell mutation
Mutation affecting gametes
Germ Cell Mutation
The presumed source of evolutionary change
Mutations
Spreading of cancer beyond the original point
Metastasis
Homologous pair of chromosomes fail to divide
Nondisjunction
Abnormal growth of cells
Tumor
Inheritance pattern for blood types
Multiple Alleles
Single nucleotide is added
Insertion
Record showing patterns of inheritance through generations
Pedigre
Changes in the genetic code occurring during replication
Mutations
Germ-Cell Mutation
- 2.
Germ-Cell Mutation: affects the gamets and occurs during meiosis.
- May be passed on to Offspring
- Does not affect the parent individual in which it occurs
Somatic-Cell mutation
- 1.
- 2.
Somatic Cell-Mutation: occurs in body cells during meitosis
- Not passed on to offspring but the individual may pass on genetic susceptibility
- Affects the individual in which the mutation occurs.
-
Gene Mutations: Change in gene or a series of related genes
- Point Mutations
- Chromosome Mutations
Point Mutations
includes ____
Point Mutations: Change in a single nucleotide
includes substitution
-
Substitution: one nucleotide in a codon is replaced by a different nucleotide.
- May still code for the same amino acid
- May also code for a different amino acid which can change the shape and function of the protein.
Example of Substitution
Sickle Cell Disease
Nucleotide Insertion
Nucleotide Deletion
Nucleotide Insertion: a single nucleotide is added to the sequence.
Nucleotide Deletion: a single nucleotide is lost.
Insertion and Deletion lead to
Frame Shift Mutation: the arrangement of nucleotide sequence into codons is rearranged or nucleotide sequence is regrouped.
Chromosome Mutations
Chromosome Mutations: change in the structure of a chromosome involving many genes.
EX:
Nondisjunction: failure of homologous pairs to separate
- Results in one gamete receiving an extra chromosome while the other gamete is missing a chromosome.
EX: downsyndrome; trisomy 21
- Most mutations are _____ and the______
- Harmful Mutations
- Mutations are the source of
- Most mutations are neutral and the change in the genetic code does not lead to a significant change in protein.
- Harmful Mutations are mutations that cause dramatic changes in protein structure.
- Mutations are the source of evolutionary change.
- Irreducible Complexity
- Many mutations occur because
- Most mutations that have significant altering effects are_
- Beneficial mutations are_
- Irreducible Complexity: all parts to a biochemical process must be present and functioning at all times
- Many mutations occur because the genetic design do not cause severe altercations
- Most mutations that have significant altering effects are _HARMFUL
- Beneficial mutations are_ information reducing not information forming.
-
Tumor: an abnormal proliferation of cells resulting from uncontrolled + abnormal cell division
- Benign: mass of abnormal cells that do not spread; not directly life threatening. - Malignant: uncontrolled dividing cells that invade and destroy healthy tissue
Mutations may occur in genes that produce
regulatory proteins that control the events at the cell cycle
Oncogenes may be
inherited and could be turned on.
Factors than can be Carcingenic
- Chemicals:
- Radiation:
Chemicals: tobacco products; asbestos; red dye
Radiation: x-rays; UV-sun
The Influential factors for developing cancer -Genetic\_\_\_\_\_\_\_\_\_\_\_\_ - - -
- Genetic Predisposition
- Frequency and intensity of carcinogen
- Type of cell affected
- Presence of multiple mutations
Pedigree Analysis Chart
- 1.
- 2.
- Carrier:_____
Pedigree Analysis/Chart: illustration that shows the relationships between family members in multiple generations
- Generally follows recessive traits
- Depicts patterns of inheritance which demonstrates predictability.
- Carrier: individual having a single copy of a recessive allele therefore does not express but can pass it on.
Human traits are difficult to follow and understand their inheritance
1.
2.
Human traits are difficult to follow and understand their inheritance
- Many traits are determined by multiple genes.
- The expression of traits are influenced by environmental factors.
Single Gene may have______ and may ________
-EX:
Single gene may have Multiple Alleles: more than two forms of expression are possible
- May express co dominance
- EX: Blood types
Controlled by more than one gene
- 1.Most Human characteristics
- 2.Trait is expressed in
- 3.Often influenced by
- 4.
Controlled by more than one gene: Polygenic traits
-1. Most Human characteristics are controlled by more than one gene
2. Trait is expressed in degrees of variation
3. Often influenced by environmental conditions
4.
Example Polygenic traits - - - -
- Hair Color
- Eye Color
- Skin Color
- Height
Sex-Linked Traits
- Most commonly carried
- Most commonly passed on
Sex-Linked Traits: traits carried on the sex chromosomes
- Most commonly carried on the X chromosome
- Most commonly passed on from mother to son
