HISTORY OF GENETICS

GENETICS = Science of inheritance (Gregor Mendel – pea plants)

GENES: Inherited Material Nomenclature
• Purple (P) = dominant; • GENE = Basic functional unit of hereditary;
White (p) = recessive Segments of DNA that carry genetic information
• Purple + White (Parent for a specific trait
1 / P1) = ALL Purple • LOCI = Specific part of a chromosome
(Foundation 1 / F1) • ALLELE = Different versions of the same gene
• F1: must contain purple • DOMINANT = Need 1 to be expressed
and white inherited • RECESSIVE = Need 2 to be expressed
elements (gametes) • HOMOZYGOUS = Same male/female alleles
• F2: inherit 1 gamete • HETEROZYGOUS = Different male/female
from each parent plant alleles
• Only 1 Purple element • GENOTYPE = Set of genes in our DNA that are
= Purple; 2 White responsible for a particular trait
elements = White • PHENOTYPE = Observed trait or characteristics
MENDEL’S LAWS
 MENDEL’S LAW OF SEGREGATION: “alleles segregate and offspring require 1 allele from each parent”
 MENDEL’S LAW OF INDEPENDENT ASSORTMENT: “2 genes are assorted independently of each other and do not influence one
another”
DIHYBRI EXCEPTION TO MENDEL’S LAW OF
D CROSS INDEPENDENT ASSORTMENT: Genetic Linkage
• 2 characteristics • 2 genes on different chromosomes • 2 genes on same chromosome
= Inherited separately = May or may not be inherited
together due to crossing over
(recombination) in meiosis

CROSSING OVER
• CROSSING OVER can occur at any point in the chromosome
• Less than 50% chance of 2 genes ending up on different chromosomes = Genes are linked as inherited together
• Greater distance between 2 genes, larger the change that there will be recombination between them = Distance between 2
different genes on the genetic map is directly proportional to the recombination frequency between these 2 genes
HARDY-WEINBERG EQUILIBRIUM
 Mendel’s Laws – traits are inherited
 Natural Selection – traits adapt and best adapted for environment more likely to be passed; act on variation to alter
frequency of traits
 Dominant & Recessive alleles lead to variation
Hardy-Weinberg Equilibrium / Equation
• = Hypothetical state of balance in a population where the frequency of dominant and recessive alleles remains the same generation
on generation
• Used to calculate allele frequencies & to detect when evolution is happening
• In nature, unlikely to reach 1
TO ACHIEVE BALANCE, A POPULATION
• Natural selection
CANNOT HAVE…
• Mutations – introduce new varieties
• Migration – alleles enter/leave population
• Population size – small, loose alleles, genetic drift
• *[BOTTLENECK EFFECT = Example of genetic drift in which a
population is abruptly reduced in size due to environmental events,
causing a change in allele frequencies in the population]
PEDIGREE DIAGRAM
 = Diagram that shows the occurrence and phenotypes of a particular gene or organism and its ancestors from 1
generation to the next
 Used to investigate genetic components of diseases
• AUTOSOMAL
DOMINANT

• X-LINKED
RECESSIVE

• MITOCHONDRIA
L
INHERITANCE PATTERNS
 CHROMOSOME = DNA molecule with part or all of the genetic material of an organism
 CHROMATID = 1 half of 2 identical copies of a replicated chromosome Sex-Linked Inheritance
 Genetic recombination in meiosis creates genetic diversity
Karyotype
• 46 homologous chromosomes
• 23 from each parent (in a
diploid cell)
• 22 somatic pairs
• 1 sex pair (XX or XY)
Fertilisation
• = Fusion of haploid gametes
• Produces diploid cells, with
genotype AA, Aa, aa
Mutation
• Dominant – 1 copy
• Recessive – 2 copies
• Autosomal – somatic chromosome
• Sexually Inherited – sex
chromosome
• Mitochondrial inheritance
• HEMIZYGOUS = Males have only 1 allele for
MITOCHONDRIAL
• Inheritance only through maternal lines:
since egg cell has mitochondria &
sperm cell only inject their DNA
• Affected males don’t pass on the genesSYNDROME)
Autosomal Dominant (Huntington’s Disease)
• 1 copy causes disease (homozygous
and heterozygous)
• Disease is present in every generation
• DD rarely reproduce for Huntington
Autosomal Recessive (Cystic
Fibrosis)
• Need 2 copies for allele to have disease
• Heterozygous are carriers
• Disease skips generations
• Member of same family have a higher
chance of heterozygous genotype – if
consanguineous unions, increased
chance of autosomal recessive trait so
not allowed
genes on X & Y chromosomes
• Y-linked only in men
• X-linked behave differently in males and
females
X-LINKED DOMINANT (FRAGILE X
• Females – homozygous XD XD or heterozygous XD
Xd
• Males – XD Y or Xd Y
• Females pass onto sons and daughters equally
• Males pass on to any daughter
• In every generation, 2 x more likely for females
than males
X-LINKED RECESSIVE (HAEMOPHILIA)
• Develops when there are 2 recessive mutations on
the X-chromosome
• 2 x more likely for males than females as 1X, 1
allele
• Doesn’t transmit from father to son
•Y-LINKED
Mothers DOMINANT
& Daughters of affected men are carriers
(BALDNESS)
• 1 Y chromosome, mutation results in disease
• Passes only from father to son
• Occurs in every generation