Beruflich Dokumente
Kultur Dokumente
Reading:
Campbell et al, Chapters 13 and 14
Knox et al, Chapters 8 and 9
Dr Paul Waters
School of Biotechnology and
Biomolecular Sciences
Outline
• Idea of genetic information; variation and heredity
• Reproduction and life cycles
• Sex vs asex, prokaryotes vs eukaryotes
• Meiosis and the transmission of genetic information in
sexual diploid eukaryotes
• Basic concepts: loci and alleles, genotype and phenotype,
homozygotes and heterozygotes, dominant and recessive
• Mendel's laws:
• 1. Segregation of alleles
• 2. Independent assortment of alleles
What is genetics?
• The study of heredity (or inheritance):
• how biological information is passed from
organisms to their offspring
• biological information = sequence of bases in
DNA.
• What else is passed on from parents to
offspring?
• How information is stored?
Genetic information
CATGCTACGCGCAAATCGAT Phenotype
CATGCTACGCACAAATCGAT Phenotype
(genetic state) (physical
trait of
organism)
• Sexual
• under sexual reproduction,
offspring are genetic
combinations of parents.
• e.g. most plants and animals,
yeast sometimes.
Human chromosomes
• 22 pairs of autosomes +
1 pair of sex
chromosomes XX or
XY
How does this genetic
material get combined in
the offspring?
Sexual reproduction: humans
• 22 autosomes + X Key Haploid gametes (n = 23)
and 22 autosomes + X or Y
chromosome from father.
• How does a cell with 46 Sperm (n)
chromosomes produce one MEIOSIS FERTILISATION
with 23?
Meiosis Ovary Testis
• Fertilisation occurs when Diploid
two gametes fuse to form a zygote
(2n = 46)
zygote with 2n (=46 in
Mitosis and
humans) chromosomes. development
Multicellular diploid
adults (2n = 46)
Meiosis and chromosomes
• Earlier in the course, you heard about the cellular
details of meiosis.
• Here, we consider the genetic consequences of
meiosis.
• Chromosomes are paired: homologous
chromosomes
• Each gene has a homologous copy on the other
chromosome
Review of meiosis
MITOSIS MEIOSIS
Prophase Prophase I
Chromosome Chromosome
Duplicated duplication duplication Homologous
chromosome 2n = 6 chromosome pair
Metaphase Metaphase I
Anaphase Anaphase I
Telophase Daughter Telophase I
cells of
Haploid
meiosis I n=3
2n 2n MEIOSIS II
Daughter cells n n n n
of mitosis
Daughter cells of meiosis II
Independent assortment
(of chromosomes)
Crossing over of chromosomes
during meiosis
• Crossing over of
homologous chromosomes
during meiosis leads to
recombination of genetic
information.
Important concepts in genetics: diploids
Locus Allele
A place on a chromosome A form or variant
where a gene is located of a gene or locus
...GAG... ...GTG...
Genotype Homozygote
The combination of alleles Genotype with two
in an individual Y y same alleles at a locus.
E.g. YY
Phenotype Heterozygote
The physical traits Genotype with two
of an organism, e.g. Yellow peas different alleles at a locus
Yy
E.g. Yy
GENOTYPES
PP Pp pp
PHENOTYPES
Example
Heterozygote
GENOTYPES
PP Pp pp
Dominance:
Purple is dominant, white is recessive
P is dominant, p is recessive
How do we know... 1865
Gregor Mendel
Father of modern genetics
Mendel’s peas
Mendel’s peas
R r
R RR Rr
r rR rr
Mendel: segregation of alleles
• Consider a single
character: flower
colour.
• Ratio of purple to
white phenotypes
in the F2
generation is 3:1
Heterozygotes
Blended inheritance
Wrong!
Test cross
Phenotype = purple
What is the
GENOTYPE?
Mendel: independent assortment
• Now consider two characters, each
determined by one gene (or locus)
F1 Dihybrid cross
Mendel: independent assortment
• Ratio of phenotypes:
• 9 : 3 : 3 : 1
It gets more complicated…
• AaBbCc × AaBbCc
• 8 distinct phenotypes, and 68 genotypes in a ratio of
• 27:9:9:9:3:3:3:1
• AaBbCcDd × AaBbCcDd
• 16 distinct phenotypes, and 256 genotypes in a ratio of
• 81:27:27:27:27:9:9:9:9:9:9:3:3:3:3:1
Consider this….
• Crossing over of
homologous chromosomes
during meiosis leads to
recombination of genetic
information.
Consider this….