During fertilization, the offsprings of F1 generations possess dominant traits. These alleles segregate and assort independently resulting in different combinations of the alleles for the cross of the F2 generation.
This pairing happens so randomly that they lead to genetic recombination. For instance, if a cross takes place between a healthy male and a carrier female, then there is a possibility that 25% of the offsprings get affected.
This happens because, when a female is a carrier of a disease, it means that she carriers the diseased allele as recessive that can be expressed in any generation. The alleles segregate and re-assort during both mitosis and meiosis.
Any change in the sequence of the gene or the structure of the chromosome is referred to as the mutations. The mutations are spontaneous and can occur due to many factors. The changes that occur in the somatic cells do not pass through the generation but those that occur in the germ cell will transmit through generation. The mutations are of the following types:
1. Gene mutations: These are also known as point mutations. As the name suggests, these occur in as small as 0.0.1%, but the consequences are huge. These are of the following types:
Addition: These are also known as insertion mutations. These occur by the addition or the insertion of a nucleotide or more than one nucleotide base in the gene sequence.
Deletion: These occur when there is a deletion or removal of a single nucleotide or more than one nucleotide base from the gene sequence.
Substitution: These result in the replacement of a single nucleotide or more than one nucleotide from the gene sequence. They are of types: transition and transversion. Transition is defined as the replacement of a purine by purine and pyrimidine by pyrimidine. Transversion refers to the replacement of a purine by a pyrimidine and pyrimidine by a purine.
2. Chromosomal mutations: These mutations mostly take place during meiosis. They arise due to the changes in the structure of one or more chromosomes. There are many types of these mutations like translocation, duplication, deletion, and inversions.
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