Genetics Objectives

Define the following terms: gene, mutation, locus, allele, chromosome, codon,
anti-codon, autosome, karyotype, genotype and phenotype

Gene: Instructions that make up the body’s blueprint

Mutation: Change in the instruction code of a particular gene that prevents it from
functioning properly
Locus: Physical location of a gene
Allele: Different versions of genes (ex. Eye color)
Chromosome: Organized structure for genes
Codon: RNA code for specific amino acid sequences, which are the building blocks for
proteins
Anti-codon: Complementary RNA code that is attached to tRNA
Autosome: First 22 chromosomes
Karyotype: Arrangement of chromosomes by size
Geneotype: The genetic makeup of an organism at a single locus (ex. AA, Aa, aa)
Phenotype: A measurable trait or characteristic (ex. Eye color or Height)

Outline the process by which transcription and translation occur

DNA is transcribed into mRNA by RNA polymerase. The mRNA contains codons, and
the tRNA must have the complementary anti-codons to bind to the mRNA codons.
When tRNA binds with mRNA, it also brings the corresponding amino acid to build the
protein the DNA encoded for.

Distinguish between the different types of gene mutations that can occur

Point mutations Frameshift and In-Frame

Missense Nonsense Frameshift In-Frame
mutation Mutation
Mutation Single base Premature STOP Number of deleted or Number of
pair codon, ending inserted base pairs is deleted or
substitution translation of NOT a multiple of 3. inserted base
mRNA After the site of pairs is a
mutation, all multiple of 3.
downstream amino
acids willl be different
Result Structurally Abnormally Result: Abnormal May only
abnormal or shaped protein protein or no protein change a few
unstable w/ altered fxn, or is made A.A.; protein
protein an unstable may still fxn
protein that is even with
degraded quickly
 different
sequence

Distinguish between autosomal dominant inheritance, autosomal recessive

inheritance, X-linked dominant inheritance, X-linked recessive inheritance and
complex inheritance

Inheritance Details
Autosomal • Only need 1 copy of disease allele to express the phenotype
Dominant • There is a 50:50 chance an offspring will express the
phenotype for (Aa x aa)
• Across the population, proportion of affected males =
affected females
• Ex. Huntington disease
Autosomal • Two copies of a disease allele are required for an individual
Recessive to express the phenotype
• Typically the parents are not affected; gene carriers
• Offspirng chances from carrier parents:
o 25% chance will inherit 2 copies of disease allele à
has the disease phenotype
o 50% chance will inherit 1 copy of disease allele à
carrier
o 25% chance will inherit 0 copies of disease allele à 0
risk of passing the disorder to their offspring
• Across the population, proportion of affected males =
affected females
• Ex. Sickle cell anemia and Cystic fibrosis
• Seen in consanguineous relationships
o Couple related by blood; first cousins
X-Linked • Only one copy of diseae alllele on the X chromosome is
Dominant needed to express the disease phenotype
• Males and females can be affected, males can be more
severly affected as some X-linked dominant disorders are
lethal in males
• When a female is affected, each pregancy will have a 50:50
chance the offspring will inherit the disease
o When a male is affected, all of his daughters will be
affected, and his sons can only be affected by the
mother
• Ex. Fragile X syndrome
X-Linked • Two copies of disease allele are required for females but
Recessive males (hemizygous) only need 1 allele to get express the
diseaese phenotype
 • For carrier females, there is a 50:50 chance her sons will will
inherit the disease allele, and a 50:50 chance her daughters
will be carriers
• Affected males will at minimum cause all their daughters to
be carriers, for them to express the phenotype, the mother
also needs to pass on the recessive allele
• Ex. Hemophilia A
Complex • Cause: interactions of variations in multiple genes and
Inheritance environmental factors
• Genes involved may make person susceptible to the
disorder, and environmental factors trigger this susceptibility
• Liability is determined by both genetic and environmental
factors
• Expressing the phenotype requires individuals to show
enough genetic liability
• Ex. Common dissorders such as heart disease, diabetes and
asthma

Distinguish between the different types of chromosome mutations.

• Mutations that affect part or the whole chromosome
Diseases Discussed in Lecture

Disease Inheritance Notes

Pattern
Huntington Autosomal • Single defect on chromosome 4 with
Disease dominant insertion of extra base pairs (frameshift
mutation)
• Leads to brain, noticed later in life and
leads to death
Sickle Cell Autosomal • Point mutation in Beta globin gene
Anemia recessive changing A.A. 6 from Gluà Val
• Sickled RBCs do not flow well, have
shorter lifespans, adhere to vascular
endothelium and do not carry as much
oxygen
Fragile X X-Linked • Decreased or absent levels of fragile X
syndrome dominant mental retardation protein due to loss of
function mutation in FMR1 gene
• Due to insertion of extra base pairs
• In boys, symptoms include:
o Long & narrow face with prom.
Forehead and face
o Large ears
o Enlarged testicles with normal
function
Hemophilia A X-Linked • Also known as factor VIII deficiency b/c
recessive mutation occur on factor VIII gene