3.4.3 Genetic Information & Variation
Organisms show variation due to genetic diversity - total number of different alleles of genes in a species/population - allows populations to adapt to changing environments
Organisms vary by proteins - sections of DNA called genes code for each individual protein - members of the same species have the same genes but may be physically different
Differences within species are due to different alleles - if a population contains many different alleles for a certain gene = genetically diverse
In one species there is a set number of alleles = gene pool - bigger gene pool = greater the variation within the species = greater genetic diversity
Greater genetic diversity = better chance of survival of the certain species as they are able to adapt to changes in their environment
Genetic Diversity = variation within a population
Specific Alleles increase in proportion over time and some decrease - dependent on if they cause differential changes in survival and reproduction
Genetic Diversity in a species is resulted of :
Mutations
Meiosis - Crossing Over & Independent Segregation
Random fusion of Gametes
A mutation is a change in the sequence o bases in the DNA of an organism
Can produce a change in the characteristics of the organism which can be passed down to cells produced through division
Hereditary mutations - inherited from parents and can cause genetic disorders e.g., cystic fibrosis
Acquired Mutations - Occur after fertilisation and are often associated with mutagenic agents
Mutations can affects genes or whole chromosomes - with either a positive, neutral or negative affect
Substitution - a base is swapped with another - can result in silent mutations
Deletion - one or several bases are removed - often results in a frame shift
Addition - One or several bases are added - often results in a frame shift
Duplication - One or more bases are repeated
Inversion of bases - a group of bases become separated from DNA and re-join at the same position but in inverse order
Translocation of bases - a group of bases become separated from DNA sequence on one chromosome and is inserted into the DNA of the same or different chromosome - Significant effects on gene expression - abnormal phenotype
Silent Mutations - The genetic code is degenerate - some amino acids are coded for by more than 1 DNA triplet - causes one change in the polypeptide chain
Frameshift - added/removed - changing the way the DNA sequence is read - Change in base sequence = different amino acids = different primary structure of proteins = Different tertiary structure due to bonds forming in different positions = proteins function changes
If the protein coded for an enzyme = Different Tertiary structure - bonds in different positions so the active site changes shape and the substrate is no longer complementary = no enzyme-substrate complexes being formed
Non-disjunction - Changes in the number of individual homologous pairs of chromosomes due to failing to separate during meiosis - Down’s Syndrome
Mutagenic Agents - Increase the rate of mutations occurring
High Energy Ionising Radiation
Chemicals - Carcinogens
Some viruses/bacteria e.g. HPV
Cell division that produces genetically unique gametes - causes variation within a species
Two nuclear divisions - 4 daughter cells formed
Daughter cells are haploid cells - humans is 23(46 diploid)
Before:
DNA unravels and replicates so each chromosome has 2 copies of the DNA
Copies = chromatids
2 sister chromatids - identical and joined by a centromere
Interphase/ S phase
Homologous Chromosomes - Matching Pairs of Chromosomes - same size and contain the same genes with different alleles - alleles with the same characteristic are found at the same fixed point(loci) at each chromosome
Meiosis :
Meiosis 1 - Separation of Homologous Pairs and the cells become haploid
Prophase 1 - Chromosomes are visible and join together to form a bivalent - where crossing over occurs
Metaphase 1 - Bivalents line up on equator - independent Segregation occurs here
Anaphase 1 - Homologous Chromosomes separate - not by centromere or into chromatids
Telophase 1 - Nuclei forms and cell divides
Meiosis II - Separation of sister chromatids
Prophase II - Centrioles move to new poles
Metaphase II - Chromosomes line up on equator
Anaphase II - Centromeres split and chromatids separate - moving to the pole of each cell
Telophase II - 4 haploid cells are produced
Creates Intraspecific Variation
Crossing Over :
Chromosomes pairs are together as a bivalent the chromatids of each pair are wrapped around each other = chiasmata
Tension on the areas = sections of the chromatid to break off and re-join to the chromatid of the homologous partner = crossing over
Alleles are exchanged between maternal and paternal chromosomes - genetic recombination
Chromosome move apart and separate during meiosis - new combinations of alleles on each chromosome = more variation in gametes
Independent Segregation :
When Homologous Chromosomes line up on the equator during Metaphase 1
During this the orientation of chromosome pairs are completely random
Separation of these pairs of chromosomes result in different combinations of maternal and paternal chromosomes in the gametes formed
Mitosis
One Nuclear Division = 2 daughter cells
The number of chromosomes stay the same
No crossing over
No pairing of chromosomes - no independent assortment
Daughter cells are genetically identical
Meiosis
Two Nuclear Divisions = 4 daughter cells
Chromosome number is halved - diploid → haploid
Crossing Over occurs
Homologous Chromosomes pair up allowing independent assortment
Daughter cells are genetically different
Organisms show variation due to genetic diversity - total number of different alleles of genes in a species/population - allows populations to adapt to changing environments
Organisms vary by proteins - sections of DNA called genes code for each individual protein - members of the same species have the same genes but may be physically different
Differences within species are due to different alleles - if a population contains many different alleles for a certain gene = genetically diverse
In one species there is a set number of alleles = gene pool - bigger gene pool = greater the variation within the species = greater genetic diversity
Greater genetic diversity = better chance of survival of the certain species as they are able to adapt to changes in their environment
Genetic Diversity = variation within a population
Specific Alleles increase in proportion over time and some decrease - dependent on if they cause differential changes in survival and reproduction
Genetic Diversity in a species is resulted of :
Mutations
Meiosis - Crossing Over & Independent Segregation
Random fusion of Gametes
A mutation is a change in the sequence o bases in the DNA of an organism
Can produce a change in the characteristics of the organism which can be passed down to cells produced through division
Hereditary mutations - inherited from parents and can cause genetic disorders e.g., cystic fibrosis
Acquired Mutations - Occur after fertilisation and are often associated with mutagenic agents
Mutations can affects genes or whole chromosomes - with either a positive, neutral or negative affect
Substitution - a base is swapped with another - can result in silent mutations
Deletion - one or several bases are removed - often results in a frame shift
Addition - One or several bases are added - often results in a frame shift
Duplication - One or more bases are repeated
Inversion of bases - a group of bases become separated from DNA and re-join at the same position but in inverse order
Translocation of bases - a group of bases become separated from DNA sequence on one chromosome and is inserted into the DNA of the same or different chromosome - Significant effects on gene expression - abnormal phenotype
Silent Mutations - The genetic code is degenerate - some amino acids are coded for by more than 1 DNA triplet - causes one change in the polypeptide chain
Frameshift - added/removed - changing the way the DNA sequence is read - Change in base sequence = different amino acids = different primary structure of proteins = Different tertiary structure due to bonds forming in different positions = proteins function changes
If the protein coded for an enzyme = Different Tertiary structure - bonds in different positions so the active site changes shape and the substrate is no longer complementary = no enzyme-substrate complexes being formed
Non-disjunction - Changes in the number of individual homologous pairs of chromosomes due to failing to separate during meiosis - Down’s Syndrome
Mutagenic Agents - Increase the rate of mutations occurring
High Energy Ionising Radiation
Chemicals - Carcinogens
Some viruses/bacteria e.g. HPV
Cell division that produces genetically unique gametes - causes variation within a species
Two nuclear divisions - 4 daughter cells formed
Daughter cells are haploid cells - humans is 23(46 diploid)
Before:
DNA unravels and replicates so each chromosome has 2 copies of the DNA
Copies = chromatids
2 sister chromatids - identical and joined by a centromere
Interphase/ S phase
Homologous Chromosomes - Matching Pairs of Chromosomes - same size and contain the same genes with different alleles - alleles with the same characteristic are found at the same fixed point(loci) at each chromosome
Meiosis :
Meiosis 1 - Separation of Homologous Pairs and the cells become haploid
Prophase 1 - Chromosomes are visible and join together to form a bivalent - where crossing over occurs
Metaphase 1 - Bivalents line up on equator - independent Segregation occurs here
Anaphase 1 - Homologous Chromosomes separate - not by centromere or into chromatids
Telophase 1 - Nuclei forms and cell divides
Meiosis II - Separation of sister chromatids
Prophase II - Centrioles move to new poles
Metaphase II - Chromosomes line up on equator
Anaphase II - Centromeres split and chromatids separate - moving to the pole of each cell
Telophase II - 4 haploid cells are produced
Creates Intraspecific Variation
Crossing Over :
Chromosomes pairs are together as a bivalent the chromatids of each pair are wrapped around each other = chiasmata
Tension on the areas = sections of the chromatid to break off and re-join to the chromatid of the homologous partner = crossing over
Alleles are exchanged between maternal and paternal chromosomes - genetic recombination
Chromosome move apart and separate during meiosis - new combinations of alleles on each chromosome = more variation in gametes
Independent Segregation :
When Homologous Chromosomes line up on the equator during Metaphase 1
During this the orientation of chromosome pairs are completely random
Separation of these pairs of chromosomes result in different combinations of maternal and paternal chromosomes in the gametes formed
Mitosis
One Nuclear Division = 2 daughter cells
The number of chromosomes stay the same
No crossing over
No pairing of chromosomes - no independent assortment
Daughter cells are genetically identical
Meiosis
Two Nuclear Divisions = 4 daughter cells
Chromosome number is halved - diploid → haploid
Crossing Over occurs
Homologous Chromosomes pair up allowing independent assortment
Daughter cells are genetically different