A polymorphism is a genetic variant that appears in at least 1% of a population. (e.g., the human ABO blood groups, the human Rh factor, and the human major histocompatibility complex). By setting the cutoff at 1%, it excludes spontaneous mutations that may have occurred in - and spread through the descendants of - a single family.

DNA polymorphism forms the basis of 1. Translation 2. Genetic mapping 3. DNA finger printing 4. Both genetic mapping and DNA fingerprinting NEET Practice Questions, MCQs, Past Year Questions (PYQs), NCERT Questions, Question Bank, Class 11 and Class 12 Questions, and PDF solved with answers Subject & Chapter Select NCERT Qs Difficulty Level

The functional effect of the polymorphism on a target DNA element or regulatory mechanism has been demonstrated using in vitro assays (e.g., gel shift, reporter assay, ligand binding); however, the function of the polymorphism on endogenous gene expression or in vivo is unknown. Class 2: Functional in vivo.

PCR-restriction fragment length polymorphism (RFLP) assay is a cost-effective method for SNP genotyping and mutation detection, but the manual mining for restriction enzyme sites is challenging and cumbersome.