Key Knowledge:
|
Sexually reproducing organisms inherit DNA from both parents, meaning they possess two copies of every chromosome (i.e. diploid)
- This means that these organisms will possess two alleles for every autosomal gene (one maternal allele and one paternal allele)
- One caveat is that males only have one allele for each gene located on a sex chromosome, as these chromosomes aren’t paired (XY)
Types of Zygosity
For any given gene, the combination of alleles can be categorised as follows:
- 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
Genotype:
The combination of alleles for a specific trait is referred to as the genotype (e.g. homozygous or heterozygous)
Phenotype:
The observable characteristic of a specific trait is referred to as the phenotype (determined by both genotype and the environment)
- Some phenotypes are determined by a single gene (monogenic), while other phenotypes are influenced by many genes (polygenic)
Modes of Inheritance
Two alleles (i.e. genotype) may interact in different ways to affect the physical expression of a characteristic (i.e. phenotype)
- The way in which the alleles are expressed in combination is called the mode of inheritance (e.g. dominance, codominance, etc.)
1. Complete Dominance
Most traits follow a classical dominant / recessive pattern of inheritance, whereby one allele is expressed over the other
- The dominant allele will mask the recessive allele when in a heterozygous state
- Homozygous dominant and heterozygous forms will be phenotypically indistinguishable
- The recessive allele will only be expressed in the phenotype when in a homozygous state
When representing alleles, the convention is to capitalise the dominant allele and use a lower case letter for the recessive allele
- An example of this mode of inheritance is mouse coat colour – black coats (BB or Bb) are dominant to brown coats (bb)
2. Codominance
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
When representing alleles, the convention is to use superscripts for the different co-dominant alleles (recessive still lower case)
- An example of co-dominance is blood groups – blood type A (IA) and blood type B (IB) can give rise to an AB blood group (IAIB)
Codominance can influence a phenotype in two different ways:
- Both traits may be seen equally within the heterozygous phenotype (i.e. forms a mosaic phenotype)
- The traits may mix to create a new outcome within the heterozygote (i.e. forms a blended phenotype)
Expression of both traits is categorised as classical codominance, while blending of traits is called incomplete dominance
3. Sex Linkage
Sex linkage refers to when a gene controlling a characteristic is located on a sex chromosome (X or Y)
- Because males and females have different sex chromosome combinations, the patterns of inheritance will differ according to sex
- Sex linked alleles are represented as superscripts attached to the relevant sex chromosome (example: XA or Xa)
Y-Linked Traits:
- Only males possess a Y chromosome and so Y-linked traits are only ever present in men (not women)
- As males only have one Y chromosome, the trait is not dominant or recessive (it is always expressed)
- A Y-linked trait will always be inherited by the sons and will never be inherited by the daughters
X-Linked Dominant Traits:
- As females possess two X chromosomes, an X-linked dominant trait will be more common in women
- An affected father always has affected daughters (daughters must inherit the father’s X chromosome)
- Sons only inherit the condition if the mother is affected (sons inherit their X chromosome from mother)
X-Linked Recessive Traits:
- As males only possess one X chromosome, an X-linked recessive trait will be more common in men
- This is because males cannot be carriers for X-linked recessive traits (they cannot be heterozygous)
- Affected mothers always have affected sons, while unaffected fathers cannot have affected daughters