Restriction Fragment Length Polymorphism
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DNA sequence changes within a gene results either in polymorphism or mutation causing different diseases. Some of these polymorphisms that occur with a high frequency within the population can be a useful tool for gene tracking for a given disease. Such investigations have initially been done by Southern blot techniques, but where possible have now been replaced by polymerase chain reaction (PCR)-based methodology. The nucleotide substitutions can be identified in two ways:
| 1. | By use of restriction enzyme analysis or restriction fragment length polymorphisms (RFLP). |
| 2. | Allele specific oligonucleotide hybridization (ASO-H) or similar techniques. |
