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Question

A SNP must be present in at least 1% of the individuals in a population to qualify as polymorphic i.e., having at least two alternative allelic forms at the locus concerned. What can be the sources of such SNPs?

A
Base pair substitutions
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B
Chromosome duplication
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C
Absence of replication
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D
Chromosomal translocations
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Solution

The correct option is A Base pair substitutions
SNPs are positions in a genome where some individuals have one nucleotide (e.g. a guanosine) and others have a different nucleotide on that position(e.g. a cytosine). These SNPs arise as a result of mutations involving base pair substitution or errors in DNA replication. Absence of DNA replication would not necessarily mean creation of SNP positions.

A duplication is the occurrence of a segment of a chromosome in two or more copies per genome. These may be located adjacent to each other or dispersed on the same chromosome. Errorless duplication of normal segments do no lead to SNPs.

When two non-homologous chromosomes exchange their parts, the resulting chromosomal rearrangements are translocations. These generally follow large DNA sequences and not a single nucleotide. However, the exchange of chromosome parts between nonhomologs establishes new linkage regions.

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