BIOL125 Lecture Notes - Lecture 3: Haemophilia, Hemoglobin A, Y Chromosome

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27 Jun 2018
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BIOL week 3 LC  Cell division, genetics, and inheritance
REFERENCE  CHAPTER 3 AND 29 OF TEXTBOOK
DNA and RNA
- Large organic molecules known as nucleic acids
- DNA = deoxyribonucleic acid (in chromosomes in nucleus)
genetic code that’s kept in chromosomes in the nucleus in
eukaryotic cells (cells like ours)
- RNA = ribonucleic acid (3 types of RNA in cells); RNAs
cooperate to code the DNA message and get required protein made
oMessenger  makes a copy of the gene sequence we want to make a protein
of
oRibosomal  helps make ribosomes
oTransfer RNA  brings correct amino acid to the ribosome, read messenger
RNA code and insert the amino acid so that we get the correct protein being
made
- DNA determines inherited characteristics eg: eye colour; controls body shape;
regulates metabolism, protein synthesis and enzyme production
- DNA encodes information to make proteins: 1 gene  1 messenger RNA  1 specific
protein made
Structure of DNA
- Two long chains of nucleotides in a double helix structure
- Nucleotide contains:
1. Pentose (5 carbon sugar) attached to both
2. Phosphate group
3. Nitrogenous base (ACGT)  A typically binds with T and G typically binds
with C
- Sugar of one nucleotide binds to the phosphate of another nucleotide  sugar-
phosphate backbone structure, with bases between the backbone
- Primary role of DNA: storage and transfer of information essential to synthesis of
proteins in body cells
- Sequence of nitrogenous bases determines amino acid order in a protein
- Information in genes, regulated by control sections of DNA
- A forms 2 hydrogen bonds with T
- G forms 3 hydrogen bonds with C
RNA structure
- RNA is typically single-stranded
- Where DNA has a T, RNA has a U for uracil
Chromosomes
- Very long DNA strands are tightly coiled into chromosomes, visible at replication.
Why is coiling needed?  by tightly coiling them up, we can package the DNA so that
it is protected against breakage during cell division
- 46 (2n/diploid) chromosomes, arranged as 23 pairs; one of each pair inherited
maternally, the other paternally; 22 pairs of autosomes, 1 pair of sex chromosomes;
some cases of extra or missing chromosomes survive to adulthood eg: Down
Syndrome (extra sex chromosome #21), Turner’s Syndrome (missing sex
chromosome)
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- Sex chromosomes for female = XX, sex chromosomes
for male = XY
- Homologous chromosome pairs can be visualised in a
karyotype
- Homologous = one chromosome eg: #1 inherited from
mum plus the same chromosome (#1) inherited from
dad (for all 23 pairs)
- Chromosomes only become dense and super coiled at
cell division
Cell Division
- When preparing for division, the cell needs to duplicate
the DNA and package it up tightly into chromosomes to
protect it during the process of cell division
- Chromatin = very loosely coiled DNA  why? Because
the cell will need to open up the helix to make proteins
for its day to day activities
Genes and Alleles
- Gene  action/sequence of DNA which codes for a specific protein ie. Insulin gene
codes for insulin protein; each clotting factor gene codes for one specific factor
protein
- Genes are located along chromosomes  large chromosomes have more genes than
smaller chromosomes
- Genes  units of heredity ie. Determine our genotype therefore our phenotype
- Two of each chromosome/autosome (apart from sex chromosomes) therefore wo
copies of each gene, at same location on both chromosomes
- Different forms/sequences of the gene are known as alleles: which two alleles you
inherit (genotype) determine your phenotype (what you “look like” ie. Which
proteins are expressed)
- If genes are not vital for survival, mutation is more commonly occurring in these
forms of genes and can’t allow different forms
Genotype and Phenotype
- The two alleles carried for each gene determines genotype at each gene locus
(location on chromosome)
- One allele may be dominant to the others, which are therefore recessive: only 1
dominant allele needs to be present to “show” as the phenotype; while both alleles
must be recessive to express the recessive phenotype
- Multiple alleles known to exist for characters such as eye colour and ABO blood type
- Co-dominant alleles: two alleles both dominant over a recessive allele; both alleles
express protein product eg: ABO blood group
- Phenotype may be influenced by environment eg: you may carry hypersensitive
response genes but do not get allergies unless environmental stressors are present
(eg: chemicals or pollen)
Alleles Arise Via Mutation
- 2 identical alleles = homozygous at that gene locus (approximately 80% of a person’s
alleles are homozygous)
- 2 different alleles = heterozygous for that gene locus
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- Alleles arise via mutation: mutation = change in the nucleotide sequence, sometimes
 different proteins
- Mutation is often lethal if it changes the required protein product so it cannot
perform its function; if not lethal, it stays in population as a new allele/version
- Mutations in major cell control genes may lead to cancer or death eg: p53 stops cell
growth and is a very important cell regulation gene; recognises damaged DNA and is
involved in DNA repair; and triggers apoptosis as a final resort for badly damaged
cells; approximately 50% of all human tumours have a mutated p53 gene
Apoptosis
- Cells have control mechanisms to prevent damaged cells from replicating themselves
 apoptosis or programmed cell death
- If these controls fail, cells with mutated DNA can survive and turn into cancer cells
- Apoptosis occurs normally during foetal development eg: when cells in the hands
and feet kill themselves  formation of separate fingers and toes
The Cell Cycle
- Mitosis consists of prophase, metaphase, anaphase and telophase
- Cytokinesis is where the new cell membrane forming and pinching off to separate
and form the two new cells
- In prophase, we get visualisation of the chromosomes – we can see them being
coiled and condensed
- In metaphase, the chromosomes line up across the centre or equator of the cell
- In anaphase, one of each of the chromosome sets is pulled to each end of the pole
- In telophase, we get new nuclear membranes forming
Cell Division
- Two types: mitosis and meiosis
- Mitosis occurs in somatic/body cells; provides an exact copy of the parent/dividing
cell
- Meiosis occurs in ovaries and testes to produce gametes/sex cells
- Mitosis  one mother cell divides into 2 identical daughter cells with 46
chromosomes (diploid #)
- Meiosis  4 haploid (23 chromosomes) daughter cells which are all different to each
other as well as the diploid parent cell
- The haploid number of 23 chromosomes is important because sperm with 23
chromosomes will fertilise an ovum with 23 chromosomes and this restores our
normal diploid number  if the cells don’t undertake meiosis, we would have double
the number of chromosomes than we need, the cell wouldn’t fertilise and develop
into a baby
Cell Division  mitosis vs. meiosis
- Mitosis:
1. Duplicate DNA
2. Undertake cell division
3. At the end of cell division, we have produced two identical daughter cells that
are identical to the parent cells as well
- Meiosis:
1. Chromosome duplication, synthesis and tetrad formation
2. Chromosomes randomly separate in each cell division
3. Cell divides twice
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Document Summary

Biol week 3 lc cell division, genetics, and inheritance. Reference chapter 3 and 29 of textbook. Dna = deoxyribonucleic acid (in chromosomes in nucleus) genetic code that"s kept in chromosomes in the nucleus in eukaryotic cells (cells like ours) Rna code and insert the amino acid so that we get the correct protein being made. Dna determines inherited characteristics eg: eye colour; controls body shape; regulates metabolism, protein synthesis and enzyme production. Dna encodes information to make proteins: 1 gene 1 messenger rna 1 specific protein made. Two long chains of nucleotides in a double helix structure. Nucleotide contains: pentose (5 carbon sugar) attached to both, phosphate group, nitrogenous base (acgt) a typically binds with t and g typically binds with c. Sugar of one nucleotide binds to the phosphate of another nucleotide sugar- phosphate backbone structure, with bases between the backbone. Primary role of dna: storage and transfer of information essential to synthesis of proteins in body cells.

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