The science of Genetics

The Personal Genome

GENOME: master set of instructions; library of information; all cellular activities
depend on it
To know DNA: know the cell; know the organism; defines who we are and what
we are capable of
Human Genome Project: may soon be possible for each of us to have our own
genome analyzeda prospect that is sure to influence our lives and change
how we think about ourselves
Genetics: applications in agriculture and medicine: feed us & keep us healthy;
what makes us human & what distinguishes each of us as individuals
Genetics began with characteristics passed onto offspring
1st: it should replicate so copies could be transmitted from parents to offspring
2nd: it should code information to guide development, functioning & behavior of cells
3rd: it should change, once in a while, to account for all the differences that exists

In 1953, structure of DNA was discovered > molecular level

Three Great milestones in Genetics
Mendel: Genes & the rules of inheritance
Watson & Crick: The structure of DNA
The Human Genome Project: Sequencing DNA and cataloguing Genes
Mendel: Genes & the rules
of inheritance
Studied inheritance of different traits in peas
Interbreed plants with diff. traits and studied how those traits were inherited
Careful analysis: discern patterns
Postulated the existence of hereditary factors responsible for the traits (K/as
Genes nowadays)
Discovered genes exist in different forms : alleles
Emphasized that hereditary factors > discrete entities
Principles of dominance & segregation
Principle of independent assortment
Published in 1866, but his work was noticed in 1900, 16 years after his death
Father of Genetics
Watson & Crick: The structure of DNA
After Mendel, the big question was what is gene?
In 1953: Watson & Crick deduced str. of DNA; nucleotides being linked
together
Monomer of DNA
A sugar molecule
A phosphate molecule
A nitrogen containing base
The sequence of nucleotide: phosphate of
one nucleotide linking with sugar of another
creates a sequence of bases (A,T,C,G) which
distinguishes one gene from another
 Proposed 2 DNA chains are held together by H-bonds; A pairs with T
and C pairs with G > one strand can predict another > complementary
pairs
A double stranded DNA k/as duplex
2 strands of DNA duplex wound around
each other in a helical pattern
THE HUMAN GENOME PROJECT: SEQUENCING
DNA AND CATALOGUING GENES
Obtaining sequence of DNA > DNA sequencing
Collection of DNA molecules characteristic to an organism > genome
X174, the First DNA Genome Sequenced
Human Genome Project: 2001; 2 articles > 2.7 billion nucleotide pairs;
suggested 30-40 thousand genes > decreased to 20,500 > catalogued
by location, structure and function
Construct & scan enormous databases; NCBI
DNA as the Genetic Material
Complementary nature
None to few mistakes
H bonds
Template strand
Gene expression : using genetic information
Mutation: changing
genetic information
Radiation, chemicals > DNA damage
Repair > leaves scars
-globin 146 aa ; 6th codon
Both allele mutant > severe disease
But confer resistance
Genes & Evolution
Charles Darwin & Alfred Wallace
Phylogenetic tree : mitochondrial
cytochrome b
Level of Genetic Analysis: Classical Genetics
period prior to the discovery of the structure of DNA k/as the era of
classical genetics.
analyzing the outcomes of crosses between different strains of organisms,
as Mendel
genes are identified by studying the inheritance of trait differences (trait
differences are due to the alternate forms of genes)
analyzing patterns of inheritance, geneticists can localize genes to specific
chromosome
localize genes to specific positions within chromosomesa practice called
chromosome mapping.
emphasize the transmission of genes and chromosomes from one
generation to the next, they are often referred to as exercises in
transmission genetics
Molecular Genetics
The replication, expression, and mutation of genes studied at the
molecular level
genetic analysis was favored when it became possible to sequence
DNA molecules easily
Knowledge of a DNA sequence and comparisons to other DNA
sequences
The genes internal components coding sequences, regulatory
sequences, and noncoding sequencescan be identified, and the
nature of the polypeptide encoded by the gene can be predicted
Genetic engineering, recombinant DNA; manipulate genes
Population Genetics
studied at the level of an entire population of organisms
the members of a population vary in their genetic makeup (carry
different alleles of a gene; perhaps they carry different alleles of many
genes)
determine the frequencies of specific alleles in a population and then
to ascertain if these frequencies change over time. If they do, the
population is evolving
useful in the effort to understand the inheritance of complex traits,
such as body size or disease susceptibility