Topics
Notes
Polymorphism:
- Polymorphism is the variation at the genetic level.
- It arises in an individual either in somatic cells or in the germ cells.
- Mutations are inheritable (Unless the mutation in the germ cell hampers the ability of an individual to produce offsprings).
- If more than one variant (allele) occurs at a locus with a frequency of more than 0.01, then the allelic sequence variation is known as 'DNA polymorphism'. Thus, any inheritable mutation which is observed at high frequency in a population is referred to as 'DNA polymorphism'.
- Variations are majorly observed in non-coding DNA sequences (they do not have any immediate effect on individual).
- Polymorphism ranges from single to large scale changes, both of which play important role in evolution and speciation.
- Dr. Alec Jeffreys developed the technique of DNA fingerprinting in an attempt to identify DNA markers for inherited diseases.
- He used satellite DNA as probe that shows a very high degree of polymorphism. It was called Variable Number of Tandem Repeats (VNTR) or mini-satellite.
- A technique to identify a person on the basis of a person's DNA specificity is called DNA fingerprinting.
Notes
Variable Number of Tandem Repeats (VNTR):
- VNTRs are also known as minisatellites and are made up of tandem repeats of short base sequences (10-100 base pairs).
- It is a small sequence of DNA present one behind other (tandemly) in variable numbers.
- High degree of variation is seen in the number of repeats.
- Size of VNTR varies from 0.1 to 20 kb. Copy number varies from chromosome to chromosome in an individual.
- The autoradiogram obtained after hybridization with VNTR probe produces bands of differing sizes. These bands are characteristic for an individual.
- Except monozygotic twins, no two individuals have same autoradiogram pattern.
- By use of polymerase chain reaction and different probes, the sensitivity of DNA fingerprinting can be increased.
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Schematic representation of DNA fingerprinting: Few representative chromosomes have been shown to contain different copy number of VNTR |

