3.4 Inheritance Flashcards
Who is Gregor Mendel and what did he develop?
Gregor Mendel was an Austrian monk who developed the principles of inheritance by performing experiments on pea plants
How did he develop the principles of inheritance? What did he find?
- Experimented on pea plants
- First, he crossed different varieties of purebred pea plants, then collected and grew the seeds to determine their characteristics
- Next, he crossed the offspring with each other (self-fertilization) and grew their seeds to similarly determine their characteristics
- These crosses were performed many times to establish reliable data trends (over 5,000 crosses were performed)
- When he crossed two different purebred varieties together the results were not a blend – only one feature would be expressed
- E.g. When purebred tall and short pea plants were crossed, all offspring developed into tall growing plants
- When Mendel self-fertilised the offspring, the resulting progeny expressed the two different traits in a ratio of ~ 3:1
- E.g. When the tall growing progeny were crossed, tall and short pea plants were produced in a ratio of ~ 3:1
What conclusion did Mendel draw from his experiments?
- Organisms have discrete factors that determine its features (these ‘factors’ are now recognised as genes)
- Furthermore, organisms possess two versions of each factor (these ‘versions’ are now recognised as alleles)
- Each gamete contains only one version of each factor (sex cells are now recognised to be haploid)
- Parents contribute equally to the inheritance of offspring as a result of the fusion between randomly selected egg and sperm
- For each factor, one version is dominant over another and will be completely expressed if present
What are 3 rules of inheritance?
- Law of Segregation: When gametes form, alleles are separated so that each gamete carries only one allele for each gene
- Law of Independent Assortment: The segregation of alleles for one gene occurs independently to that of any other gene*
- Principle of Dominance: Recessive alleles will be masked by dominant alleles†
* The law of independent assortment does not hold true for genes located on the same chromosome (i.e. linked genes)
† Not all genes show a complete dominance hierarchy – some genes show co-dominance or incomplete dominance
What are gametes?
Gametes are haploid sex cells formed by the process of meiosis – males produce sperm and females produce ova
How many allele do gametes possess for each gene? How many does the resulting zygote have after the male and female gametes fuse during fertilisation? What is an exception?
Gametes are haploid, meaning they only possess one allele for each gene
When male and female gametes fuse during fertilisation, the resulting zygote will contain two alleles for each gene
- Exception: Males have only one allele for each gene located on a sex chromosome, as these chromosomes aren’t paired (XY)
What are the different combinations of alleles for any given gene?
- If the maternal and paternal alleles are the same, the offspring is said to be homozygous for that gene
- If the maternal and paternal alleles are different, the offspring is said to be heterozygous for that gene
- Males only have one allele for each gene located on a sex chromosome and are said to be hemizygous for that gene
What is a genotype and phenotype?
The gene composition (i.e. allele combination) for a specific trait is referred to as the genotype
- The genotype of a particular gene will typically be either homozygous or heterozygous
The observable characteristics of a specific trait (i.e. the physical expression) is referred to as the phenotype
- The phenotype is determined by both the genotype and environmental influences
When would the recessive allele be expressed in the phenotype?
When in a homozygous state
When does co-dominance occur?
Co-dominance occurs when pairs of alleles are both expressed equally in the phenotype of a heterozygous individual
- Heterozygotes therefore have an altered phenotype as the alleles are having a joint effect
How is a co-dominant allele represented?
Using superscripts for different co-dominant alleles (recessive still lower case)
How are human red blood cells categorised?
Human red blood cells can be categorised into different blood groups based on the structure of a surface glycoprotein (antigen)
Are A,B,O dominant, codominant, or recessive
- The A and B alleles are co-dominant and each modify the structure of the antigen to produce different variants
- The O allele is recessive and does not modify the basic antigenic structure
What do A,B and O alleles all produce?
The A, B and O alleles all produce a basic antigen on the surface of red blood cells
What cant and can A,B,AB,O blood receive?
What is the consequence of an Incompatible blood transfusion?
Surface antigens on a incompatible blood cell will be attacked by antibodies from your body = Agglutination (clumping) then Haemolysis
How are genetic diseases caused?
Genetic diseases are caused when mutations to a gene (or genes) abrogate normal cellular function, leading to the development of a disease phenotype
- Genetic diseases can be caused by recessive, dominant or co-dominant alleles