Patterns of Inheritance Flashcards
Causes of phenotype variation
The appearance of a living organism (phenotype) is influenced both by its genotype (genetic makeup) and environment
What is a mutation
Change in the genetic material
-Structure of DNA
-Change to structure/ gross number of chromosomes
What is a mutagen
Certain physical/ chemical agents that cause mutations
Physical mutagen agents e.g.
-X-rays
-Gamma rays
-UV light
Chemical mutagen agents e.g.
-Benzopyrene (in tobacco smoke)
-Mustard gas
- Nitrous acid
Biological mutagen agents e.g.
- Some viruses
-Transposons - jumping genes, remnants of viral nucleic acid that have become incorporated into our genome
-Food contaminants i.e. mycotoxins from fungi
Mutations that occur during gamete formation
Can be advantageous/ neutral/ harmful
-Persistent: Can be transmitted through many generations without change
-Random: Not directed by a need on the part of the organism in which they occur
When do chromosome mutations occur
Meiosis
Types of chromosome mutations
-Deletion
-Inversion
-Translocation
-Duplication
-Non-disjunction
Deletion (Chromosome mutation)
Part of a chromosome (containing genes and regulatory sequences) is lost
Inversion (Chromosome mutation)
Section of the chromosome may break off and turn 180 degrees and then join again
=Although all genes are still present, some may now be too far away from their regulatory nucleotide sequence to be expressed
Translocation (Chromosome mutation)
A piece of one chromosome breaks off and attaches to another chromosome
-May also interfere with the regulation of genes on the translocated chromosome
Duplication (Chromosome mutation)
A piece of the chromosome may be duplicated
-Overexpression of genes can be harmful, as too many of certain proteins/ gene regulating nucleic acids, may disrupt metabolism
Non-disjunction (Chromosome mutation)
One pair of chromosomes/chromatids fails to separate, leaving one gamete with an extra chromosome
=When fertilized by a normal haploid gamete, the resulting zygote has one extra chromosome
What diseases are caused by Non-disjunction
Down syndrome / trisomy 21
Two types of Non-disjunction
-Aneuploidy
-Polyploidy
Aneuploidy
The chromosome number is not an exact number of the haploid number for that organism
-Sometimes chromosomes/chromatids fails to separate during meiosis
All in pairs but one set has an extra chromosome i.e. chromosome 21 has an extra chromosome which results in the disease trisomy
Polyploidy
Polyploidy- more than two copies of chromosomes
Diploid - meiosis error = instead of producing haploid egg and sperm it produces diploid egg and sperm
2n+ 2n = tetraploid plant
When diploid+ tetraploid fertilise
n+ 2n = 3n it will produce a triploid plant (non-viable and infertile)
Species
Interbreed; produce fertile offspring
How does sexual reproduction increase genetic variation
- Allele shuffling: P1
-Independent assortment: M1+A1/M2/A2
-Ransom fusing of gametes
Environmental factors that cause variation
-Speaking with a particular regional dialect
-A scar
Genetic factors that cause variation
-Blood group
-Tongue rolling
Genetic and Environmental factors that cause variation
-Skin colour
-Intelligence
-Sporting mass
-Body mass
-Height
How is variation caused by the environment interacting with genes
If plants are kept in dim light after germination/ soil contains insufficient nutrients then leaves do not develop enough chlorophyll
-Plant described as chlorotic + cannot photosynthesise
=Chlorotic plants have the genotype to make chlorophyll but environmental factors prevent them from expressing this gene
Dominant/ Recessive
Dominant: D
Recessive: d
Pure breeding
BB/ bb not Bb
TT
tt
Tt
Homozygous dominant
Homozygous recessive
Heterozygous
F1 generation
Parent phenotypes: Tall Short
Parent genotypes: TT tt
Gametes: T t
T
t = Tt
so F1 generation 100% chance of being tall
F2 generation
Parent phenotypes: Tall Short
Parent genotypes: Tt Tt
Gametes: T or t T or t
T t
T TT Tt
t Tt tt 3: 1 ratio and 75% chance of being tall
Monogenic
Determined by a single gene
The test cross
When you want to find the tall plants original genotype is tall/ short you need to cross-breed it with a plant with the recessive gene (the small plant)
Tall Plant = TT Tt
Short plant = tt
T T t t Tt t Tt tt
all tall 50% chance
Co-dominance
Where both alleles present in the genotype of a heterozygous individual are being expressed
Cow coat colour e.g. of co-dominance
C(R) - red cows
C(W) - white cows
Red White
C(R) C(R) C(W) C(W)
C(R) C(W) C(R) C(W) = F1 generation
Cow coat colour e.g. of co-dominance (F2 generation)
Roan Roan
C(R) C(W) C(R) C(W)
C(R) C(W) C(R) C(W)
Multiple alleles
Characteristic where there are three or more alleles in the population gene pool
Multiple alleles - human blood
3 Blood groups: A;B;O
- A/B dominant over O
Multiple alleles - human blood combinationS
I(B) I(B) = B
I(O) I(O) = O
I (A) I(B) = AB
I(B) I(O) = B
Multiple alleles - human blood e.g.
Female Male
I(B) I(O) I(A) I(O)
I(B) I(O) I(A) I(O)
Sex- linkage
Gene present on (one of) the sex hormones
Autosomes
The first 22 chromosomes
-Fully homologous
-Match for length and contain the same genes at the same loci
23rd chromosome onwards
Sex chromosomes
Female: XX
Males: XY
Male 23rd chromosome
Not fully homologous but a small part of one matches a small part of the other so that the chromosomes can pair before meiosis
Why do males often suffer from genetic diseases via sex hormones and females do not
If a female has an abnormal allele on her X chromosome she probably has a functioning gene on the other X chromosome
If a male inherits from his mother the X chromosome with the abnormality he will suffer from a genetic disease as he won’t have another functioning allele for that gene
Men and X linked genes
Haploid/ hemizygous
Haemophilia A
Unable to clot blood fast enough; injuries may cause an internal haemorrhage
- on the h = recessive allele