chapter 13 part 1

Genotype

Genetic makeup of a cell or organism

Phenotype

Physical expression of genes into observable traits

Alleles

Different forms of a gene

Allele B is

Brown eyes and dominant

Allele b is

Blue eyes and recessive

Bb is

Heterozygous

BB is

Homozygous dominant

bb is

Homozygous recessive

Mutations

Changes in the genetic information of a cell

Mutations affect

Protein structure, and function

Mutations are a source of

Genetic variation

Mutations are any

Heritable change in the genetic material

Mutations can be

Harmful, beneficial, or neutral

Harmful mutation example

Mutation in the HTT gene increases glutamine in the final protein product and results in Huntington’s disease

Neutral mutations example

Mutation in the gene TAS2R38 encodes a taste receptor on the tongue

Beneficial mutations example

Mutation in the gene that encodes lactase the enzyme that breaks down lactose

Beneficial mutations improve the

Chances of survival and reproduction

Effect of a mutation can be altered by the

Environment

Blank changes the amino acid from glutamine to valine or lysine

Single base pair mutation

Most mutations are blank

Spontaneous, occur randomly, not for any perceived need by an organism

Nucleotide mutation rates

Differ amongst species

Nucleotide mutation rates are based on the

Fidelity of DNA replication and repair mechanisms

Humans have the lowest number of

Mutations per nucleotide per replication

Humans have the highest number of

Mutations per gnome per generation

Youmans average number per genome per generation and genome size is due to having a large genome and undergo

Many cell divisions over a long lifetime

In humans, the mutation rate is greater in

Males then in females

Average error rate in DNA replication is impacted by

Certain nucleotides prone to mutation or hotspots, differences between the sexes

Somatic cells

Body cells

Germ line cells

Sex cells

Somatic mutations occur in

Non-reproductive cells and stay within individual

Germ line mutations occur in

Reproductive cells and passed to offspring

In somatic mutations the rate of mutation for

Each round of DNA replication is more consequential and results in all future daughter cells having the mutation

In germ line mutations the rate of mutation in

Each generation is more consequential and can be passed on to individuals in the next generation

Most cancers result from mutations in

Somatic cells

Malignancy occurs with the

Accumulation of mutations

Antibiotic resistant mutations, arise, blank, exposure to antibiotics

Before

Small scale includes

point, three nucleotide pair insertion and deletion, transposable elements

Point mutations change in

Single nucleotide

Point mutations results in

Single nucleotide polymorphisms

Point mutations consist of

Silent, missence, nonsense, frame shift, insertion and deletion

Silent is also known as

Synonymous and does not change the amino acid

Missense is also known as

Nonsynonymous and changes the amino acid

Nonsense mutation creates a

Stop codon

Frame shift mutation consists of

Insertions or deletions of one or two base pairs changes the reading frame, and is significant change in amino acid sequence

Three nucleotide pair insertion and deletion is when

Three nucleotides are deleted in the CFTR gene

Transposable elements

Disrupt the function of a different gene

Who discovered transposable elements

Mcclintock