3.4 Inheritance
The inheritance of genes follows patterns.
Essential idea:
| Statement | Guidance |
3.4.U1 | Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed. | |
3.4.U2 | Gametes are haploid so contain only one allele of each gene. | |
3.4.U3 | The two alleles of each gene separate into different haploid daughter nuclei during meiosis. | |
3.4.U4 | Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the same allele or different alleles. | |
3.4.U5 | Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects. | |
3.4.U6 | Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases are due to dominant or co-dominant alleles. | |
3.4.U7 | Some genetic diseases are sex-linked. The pattern of inheritance is different with sex-linked genes due to their location on sex chromosomes. | Alleles carried on X chromosomes should be shown as superscript letters on an upper case X, such as Xh. |
3.4.U8 | Many genetic diseases have been identified in humans but most are very rare. | |
3.4.U9 | Radiation and mutagenic chemicals increase the mutation rate and can cause genetic diseases and cancer. | |
3.4 Inheritance
Understandings
Syllabus Reference
| Statement | Guidance |
3.4.A1 | Inheritance of ABO blood groups. | The expected notation for ABO blood group alleles: O = i, A=IA, B = IB. |
3.4.A2 | Red-green colour blindness and hemophilia as examples of sex-linked inheritance. | |
3.4.A3 | Inheritance of cystic fibrosis and Huntington’s disease. | |
3.4.A4 | Consequences of radiation after nuclear bombing of Hiroshima and accident at Chernobyl. | |
3.4.S1 | Construction of Punnett grids for predicting the outcomes of monohybrid genetic crosses. | |
3.4.S2 | Comparison of predicted and actual outcomes of genetic crosses using real data. | |
3.4.S3 | Analysis of pedigree charts to deduce the pattern of inheritance of genetic diseases. | |
Applications and Skills
3.4 Inheritance
Syllabus Reference
3.4 Inheritance
Vocabulary
1. Genes are the sole determinants of traits (features)
2. Single genes code for most traits (features)
3. Dominant traits are the most common traits in a population
4. All mutations are harmful
5. Once a mutation is discovered, it can be “fixed”
6. Only certain people have “disease genes”
7. If a couple has a “one-in-four” risk of having a child with a disease, and their firstborn has the disease, the next three children will have a reduced risk.
8. Genetic diseases are always caused by recessive genes
3.4 Inheritance
Inheritance Pretest - True or False?
PreTest
3.4 Inheritance
A gene is a heritable factor that controls a specific characteristic
3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
3.4 Inheritance
Gregor Mendel was an Austrian monk
3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
3.4 Inheritance
Gregor Mendel’s scientific experiments
3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
Chromosome
Genes
A body of condensed DNA containing many hundreds of genes
B
A
C
3.4 Inheritance
Chromosome:
3.4.U2 Gametes are haploid so contain only one allele of each gene.
Specific forms of the same gene.
Each allele has a different effect on the characteristic
B
b
3.4 Inheritance
Alleles:
3.4.U2 Gametes are haploid so contain only one allele of each gene.
The combination of alleles which an organism carries for a particular gene
B
B
b
B
b
b
Genotype: BB
Genotype: Bb
Genotype: bb
alleles
3.4 Inheritance
Genotype:
3.4.U2 Gametes are haploid so contain only one allele of each gene.
Principle of Dominance: Recessive alleles will be masked by dominant alleles
If an individual has two different alleles of a gene on a pair of chromosomes the individual is…
…homozygous
…heterozygous
If an individual has two copies of same allele of a gene on a pair of chromosomes the individual is…
b
B
B
B
b
b
The prefix homo- means…
‘same’
The prefix hetero- means…
‘other’
3.4 Inheritance
3.4.U3 The two alleles of each gene separate into different haploid daughter nuclei during meiosis.
An allele which is always expressed when it is present…
… in both homozygous and heterozygous genotypes.
B
b
Brown eye allele Blue eye allele
Brown eye phenotype
3.4 Inheritance
Dominant allele:
3.4.U5 Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects.
An allele which can only affect a phenotype when in a homozygous genotype
… it is only expressed when two recessive alleles are present.
b
b
Blue eye phenotype
Blue eye alleles
3.4 Inheritance
Recessive allele:
3.4.U5 Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects.
the offspring of two plants or animals of different species or varieties
an animal bred from parents of the same breed or variety.
pollination of a flower or plant with pollen from another flower or plant
The transfer of pollen from a male reproductive structure (an anther or male cone) to a female reproductive structure (a stigma or female cone) of the same plant or of the same flower.
Hybrid
Purebred
Cross pollination
Self-pollination
3.4 Inheritance
Define the following terms
3.4 U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
2. What were the two theories of inheritance popular before Mendel did his experiments. Explain what each of these theories proposed.
3. Why did Mendel pick pea plants for his experiments?
3.4 Inheritance
Answer the following
3.4 U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
4. Describe Mendel’s two laws.
Complete the quiz
3.4 Inheritance
Answer the following
3.4 U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
Trait
Pedigree
3.4 Inheritance
Define the following terms
3.4 U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
The chromosomes in the nucleus are copied
Four haploid daughter cells are produced
Each haploid sperm cell contains only one of the two alleles from the diploid parent cell
Diploid parent cell
3.4 Inheritance
Sperm cells are produced by meiosis
3.4.U4 Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the same allele or different alleles.
Ova (egg cells) are also produced by meiosis
3.4 Inheritance
Define the following terms
3.4 U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
3.4 Inheritance
3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
3.4 Inheritance
A little bit of history...
So what did we learn?
3.4 Inheritance
3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
3.4 Inheritance
3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
3.4 Inheritance
What is codominance?
3.4.S2 Comparison of predicted and actual outcomes of genetic crosses using real data.
A, B, AB and O
The four common blood groups of the human ABO blood group system are determined by three alleles:
IA, IB, i
(but, one individual can possess only two alleles)
IA & IB are co-dominant and i is recessive
3.4 Inheritance
Humans have 4 blood group phenotypes:
3.4.A1 Inheritance of ABO blood groups.
3.4 Inheritance
Humans have 4 blood group phenotypes:
3.4.A1 Inheritance of ABO blood groups.
3.4 Inheritance
The ABO blood type classification system uses the presence or absence of certain antigen on red blood cells to categorize blood into four types.
3.4.A1 Inheritance of ABO blood groups.
1.Write down the genotypes of a person with type B blood.
2. The wife is heterozygous for blood group A, the husband has blood group O. Determine the probability of:
A child having blood group O
A child having blood group A
3.4 Inheritance
Humans have 4 blood group phenotypes:
3.4.A1 Inheritance of ABO blood groups.
3,358 genes with a phenotype-causing mutation (OMIM, March 19, 2015)
It is unlikely that one parent will have a mutation on a disease related gene, but the probability that both parents have a mutation on the same gene is very small.
For example: Phenylketonuria (PKU) is a rare metabolic disorder that can be destructive to the nervous system, causing intellectual disability. About 1 out of every 15,000 babies is born with PKU.
3.4 Inheritance
Genetic diseases are very rare
3.4.U8 Many genetic diseases have been identified in humans but most are very rare.
“According to the US Bureau of Labor Statistics, the graduate of today will change career four to six times in a lifetime. By one estimate, 65 per cent of the jobs that will be available upon college graduation for students now entering high school (that's eight years from now) do not yet exist. Consider the new interdisciplinary field of genetic counselling, which combines biological science with social work and ethics - it was ranked as one of the "top 10" career choices of 2010 because it offered far more openings than could be filled by qualified applicants.”
You are a genetic counselor. A couple walk into your clinic and are concerned about their pregnancy. They each have one parent who is affected by cystic fibrosis (CF) and one parent who has no family history. Explain CF and its inheritance to them. Deduce the chance of having a child with CF and how it can be tested and treated.
Use the following tools in your explanations:
3.4 Inheritance
Career-related Case Study
3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases are due to dominant or co-dominant alleles.
3.4 Inheritance
Cystic Fibrosis (CF)
3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases are due to dominant or co-dominant alleles. AND 3.4.A3 Inheritance of cystic fibrosis and Huntington’s disease.
Genotype | | | |
Description | Homozygous HbA | Heterozygous | Homozygous HbS |
Phenotype | | | |
Malaria protection? | | | |
Genotype | HbA HbA | HbA HbS | HbS HbS |
Description | Homozygous HbA | Heterozygous | Homozygous HbS |
Phenotype | normal | carrier | Sickle cell disease |
Malaria protection? | No | Yes | Yes |
3.4 Inheritance
Sickle Cell is another example of codominance.
3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases are due to dominant or co-dominant alleles.
Huntington's Disease (HD) is a brain disorder that affects a person's ability to think, talk, and move. HD is caused by a mutation in the HTT gene on chromosome 4. Gene product is huntington. Function still researched.
3.4 Inheritance
Huntington’s Disease
3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases are due to dominant or co-dominant alleles. AND 3.4.A3 Inheritance of cystic fibrosis and Huntington’s disease.
3.4 Inheritance
Huntington's Disease (HD) is a brain disorder that affects a person's ability to think, talk, and move. HD is caused by a mutation in a gene on chromosome 4.
3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases are due to dominant or co-dominant alleles.
How is sex determined?
Is the male gender at risk of extinction?
3.4 Inheritance
Guiding Questions:
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
Autosomes
3.4 Inheritance
Sex Chromosomes
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
Because a woman only contributes an X chromosome
3.4 Inheritance
The man determine the sex of the baby...
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
Why do men suffer from colour blindness, baldness, and haemophilia more often than women?
Is the X-chromosome or the y-chromosome responsible?
Are these traits caused by dominant genes on the Y chromosome, or recessive genes on the X chromosome?
3.4 Inheritance
Guiding Questions
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
3.4 Inheritance
Watch These
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
Read the article and the links then choose one of the activities
3.4 Inheritance
Watch These
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
3.4 Inheritance
What number do you see?
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
Non-homologous region
Non-homologous region
Examples of sex-linked genetic disorders:
- haemophilia
- colour blindness
Alleles in this regions are expressed whether they are dominant or recessive, as there is no alternate allele carried on the Y chromosome.
Sex-linked traits are those which are carried on the X-chromosome in the non-homologous region.
3.4 Inheritance
The sex chromosomes are non-homologous. There are many genes on the X-chromosome which are not present on the Y-chromosome.
3.4.U7 Some genetic diseases are sex-linked. The pattern of inheritance is different with sex-linked genes due to their location on sex chromosomes.
3.4 Inheritance
What number do you see?
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
5 = normal vision
2 = red/green colour blindness
Key to alleles:
N = normal vision
n = red/green colour
blindness
XN XN
Xn Xn
XN Xn
XN Y
Xn Y
no allele carried, none written
Normal female
Normal male
Affected female
Affected male
Carrier female
Human females can be homozygous or heterozygous with respect to sex-linked genes. Heterozygous females are carriers.
3.4 Inheritance
How is colour-blindness inherited?
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
3.4 Inheritance
Explain the inheritance of colour blindness (8 marks).
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
3.4 Inheritance
Hemophilia
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
Segregation refers to alleles of the same gene separating into different gametes (i.e. one sperm gets a "A" and the other a "a" from a heterozygous "Aa" male. This occurs during meiosis 1.
Independent assortment is when different genes, located on different chromosomes move independently from each other (i.e. what happens to gene "A" has no effect on gene "B"). Occurs during metaphase 1 of meiosis.
10.2 Inheritance
Both independent assortment and segregation occur during meiosis
10.2.U1: Unlinked genes segregate independently as a result of meiosis.
Unlinked genes (traits are on different chromosomes).
Monohybrid cross is when one gene is crossed.
10.2 Inheritance
10.2.U1: Unlinked genes segregate independently as a result of meiosis.
10.2 Inheritance
10.2.U1: Unlinked genes segregate independently as a result of meiosis.
10.2 Inheritance
10.2.U1: Unlinked genes segregate independently as a result of meiosis.
10.2 Inheritance
10.2 U1 Gene loci are said to be linked if on the same chromosome
3.4 Inheritance
Sources of mutations
3.4.U9 Radiation and mutagenic chemicals increase the mutation rate and can cause genetic diseases and cancer.
mutation in a oncogene
If a mutation occurs in an oncogenes it can become cancerous. In normal cells oncogenes control of the cell cycle and cell division.
uncontrolled cell division
tumour formation
malfunction in the control of the cell cycle
3.4 Inheritance
Review: 1.6.U6 Mutagens, oncogenes and metastasis are involved in the development of primary and secondary tumours.
A mutation is a change in an organisms genetic code.
A Gene mutation is a change in the nucleotide sequence of a section of DNA coding for a particular feature
Mutations can be classed as being beneficial, neutral or harmful. Most mutations are neutral or harmful.
Mutations that occur in body (somatic cells) remain within the organism. Mutations that occur in gametes can be inherited by offspring: this is how genetic diseases arise.
3.4 Inheritance
3.4.U9 Radiation and mutagenic chemicals increase the mutation rate and can cause genetic diseases and cancer.
Radioactive isotopes released into the environment exposing humans and other organisms to potentially dangerous levels of radiation.
3.4 Inheritance
Accident at Chernobyl nuclear power station
3.4.A4 Consequences of radiation after nuclear bombing of Hiroshima and accident at Chernobyl.
3.4 Inheritance
Accident at Chernobyl nuclear power station
3.4.A4 Consequences of radiation after nuclear bombing of Hiroshima and accident at Chernobyl.
3.4 Inheritance
Nuclear bombing of Hiroshima
3.4.A4 Consequences of radiation after nuclear bombing of Hiroshima and accident at Chernobyl.
3.4 Inheritance
Larger samples give smaller standard deviation*, this in turn makes it easier to find a statistically significant result at a higher confidence level
In smaller samples anomalous values are more likely to skew the calculated mean and standard deviation
First to develop theory scientists must make deductions and test hypotheses: both processes rely on quantitative data.
Secondly It is not enough to just have numerical data, the sample size must be sufficiently large to be judged reliable.
3.4 Inheritance
To use statistical tests correctly and reach valid conclusions samples of quantitative data has to be sufficiently large
Nature of science: Making quantitative measurements with replicates to ensure reliability. Mendel’s genetic crosses with pea plants generated numerical data. (3.2)
3.4 Inheritance
Chi Squared
3.4.S2 Comparison of predicted and actual outcomes of genetic crosses using real data.
https://www.youtube.com/watch?v=5WGUbfzr31s (watch from 26:12 - 47:08)
https://www.youtube.com/watch?v=YfulqRdDbsg Called Inside Chernobyl – quite a good film by an amateur filmmaker. There are some disturbing images.
https://www.youtube.com/watch?v=b8QY5gt1weE (watch 35:00 to 49:00 – study on the effects of radiation on Hiroshima survivors)
3.4 Inheritance
Application: Consequences of radiation after nuclear bombing of Hiroshima and accident at Chernobyl.
Drosophila breeding labs
3.4 Inheritance
10.2 Inheritance
10.2.A1 Completion and analysis of Punnett squares for dihybrid traits.
10.2 Inheritance
10.2.A1 Completion and analysis of Punnett squares for dihybrid traits.
10.2 Inheritance
10.2.A1 Completion and analysis of Punnett squares for dihybrid traits.
10.2 Inheritance
| Yellow Smooth | Yellow Wrinkled | Green Smooth | Green Wrinkled |
Observed | | | | |
Expected | (9/16) x 1216 = 684 | (9/16) x 1216 = 228 | (9/16) x 1216 = 228 | (9/16) x 1216 = 76 |
(O-E) | | | | |
(O-E)2/E | | | | |
10.2 Inheritance
10.2.A1 Completion and analysis of Punnett squares for dihybrid traits.
�
10.2 Inheritance
10.2.U5 Chi-squared tests are used to determine whether the difference between an observed and expected frequency distribution is statistically significant.
�Activity: Use the chi-squared test to determine if these results are due to independent assortment.
10.2 Inheritance
10.2.A1 Completion and analysis of Punnett squares for dihybrid traits.
10.2 Inheritance
10.2.S3 Use of chi-squared test on data from dihybrid crosses.
10.2 Inheritance
10.2.S3 Use of chi-squared test on data from dihybrid crosses.
10.2 Inheritance
10.2.U3 Variations can be discrete or continuous.
Monogenic traits (characteristics controlled by a single gene loci) tend to exhibit discrete variation, with individuals expressing one of a number of distinct phenotypes. Eg Blood Type
10.2 Inheritance
You either have the characteristic or you don't.
10.2.U4 The phenotypes of polygenic characteristics tend to show continuous variation.
Polygenic traits (characteristics controlled by more than two gene loci) tend to exhibit continuous variation, with an individual’s phenotype existing somewhere along a continuous spectrum of potential phenotypes. Eg Skin colour. multiple melanin producing genes
10.2 Inheritance
There is a complete range of measurements from one extreme to the other
10.2.U4 The phenotypes of polygenic characteristics tend to show continuous variation.
10.2 Inheritance
10.2 U4 The phenotypes of polygenic characteristics tend to show continuous variation
An example of a polygenic trait is grain colour in maize (wheat), which is controlled by three gene loci. Grain colour can range from white to dark red, depending on the amount of pigment that is expressed
10.2 Inheritance
Maize Grain Colour
10.2 U4 The phenotypes of polygenic characteristics tend to show continuous variation
One example of a polygenic trait that is influenced by environmental factors is human height.
Human height is controlled by multiple genes (polygenic), resulting in a bell-shaped spectrum of potential phenotypes
Environmental factors such as diet and health (disease) can further influence an individual human’s height
�Another example of a polygenic trait that is influenced by environmental factors is human skin colour. Skin colour is controlled by multiple melanin producing genes, but is also affected by factors such as sun exposure
�
10.2 Inheritance
Height and Skin colour can be influenced by the environment
10.2 A3 Polygenic traits such as human height may also be influenced by environmental
10.2 Inheritance
Offspring with unlinked genes have an equal possibility of inheriting any potential phenotypic combination
Offspring with linked genes will only express the phenotypic combinations present in either parent unless crossing over occurs
10.2 Inheritance
10.2 Inheritance
Sex Linked
10.2 A1 Morgan’s discovery of non-Mendelian ratios in Drosophila.
10.2 Inheritance
10.2 U3 Variation can be discrete or continuous.
Unlinked genes are on different chromosomes.
10.2 Inheritance
10.2 U2 Unlinked genes segregate independently as a result of meiosis.
10.2 Inheritance
10.2 A1 Morgan’s discovery of non-Mendelian ratios in Drosophila.
10.2 Inheritance
10.2 S2 Identification of recombinants in crosses involving two linked genes.
10.2 Inheritance
Checkpoint