Approximately 50 million SNPs have thus far beenrecorded after the characterization of thousands ofhuman genomes.a. About how many base pairs in the human genomeare identical in these thousands of people?b. Do you think that many other SNPs exist among thehuman population? If so, why haven’t they been found?c. Almost all of the SNP polymorphisms found to dateare biallelic; that is, among all the genomes in thepopulation studied to date, only two possible allelescan be found (for example, A and C). Provide arough estimate for the number of triallelic SNP locithat could be found in the same group of humans(that is, the number of loci with three differentalleles—for example, A, C, and T). At about howmany loci would all four possible nucleotides befound among the human genomes studied to date?

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Asked Mar 11, 2020
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Approximately 50 million SNPs have thus far been
recorded after the characterization of thousands of
human genomes.
a. About how many base pairs in the human genome
are identical in these thousands of people?
b. Do you think that many other SNPs exist among the
human population? If so, why haven’t they been found?
c. Almost all of the SNP polymorphisms found to date
are biallelic; that is, among all the genomes in the
population studied to date, only two possible alleles
can be found (for example, A and C). Provide a
rough estimate for the number of triallelic SNP loci
that could be found in the same group of humans
(that is, the number of loci with three different
alleles—for example, A, C, and T). At about how
many loci would all four possible nucleotides be
found among the human genomes studied to date?

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Expert Answer

Step 1

The human genome consists of about 3 million base pairs and 23 pairs of chromosomes. Out of these, 22 are autosomal chromosomes and 1 is sex chromosome.

Step 2

a) The human genome project determined the DNA sequence of the complete human genome. This project revealed that there are about 3 × 109 nucleotide pairs in the human genome. Around 5 × 107 SNPs were recorded after characterizing the genome of thousands of humans. So, by calculating 99.9% of 3 × 109 base pairs. The number of identical base pairs can be found. Therefore, the number of identical base pairs are as follows:

        Number of identical base pairs = 3.0 × 109 × 99.9/100

                                                          = 2.99 × 109 base pairs.

Thus, 2.99 × 109 base pairs would be identical among the population.

Step 3

b)  It was estimated by scientists that in the human genome, there are about 10 million locations where nucleotide sequences are different. These difference in the nucleotide sequence are called as Single ...

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