Characteristics of the Perfect Genome

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Although on the outside people may seem very different, the truth is that, at a genetic level, the difference between two people is less than 0.1%. This means that, if our DNA is made up of 3,000 x 106 base pairs, two individuals will contain different genetic information approximately in 30 million base pairs. 

Therefore, although a priori 0.1% sounds insignificant, when we see it in terms of base pairs, it becomes important. That 0.1% has a great influence between two people, and is related to a genetic susceptibility of disease development, to suffer adverse effects associated with genetic biomarkers, response to certain infections ... 

This distribution of the 3,000 million base pairs is fundamental for all the biological processes that take place in each of the cells of our body. Each of the changes in our DNA are called SNPs (Single Nucleotide Variants) and represent one of the mechanisms of human evolution. Therefore, We can classify these SNPs as "good" or "bad" depending on the protective or risk effect they might have in relation to all the traits. in which genetics may be influencing. 

Thus, one could design what would be a "Perfect genome", including "good" SNPs. A study on this clarified that the number of "good" SNPs that the perfect genome should have should be 4967, approximately. If we represent the distribution of this genome with respect to the different populations, we will be able to identify which population this genome will most resemble (Figure 2):

This figure represents the distribution of SNPs of the “perfect genome” colored in pink together with the different populations, AFR: African / African American, AMR: Amerindian / Latino, EAS: East Asian, EUR: European, OPT: Other populations. As we can see, according to this principal component analysis, the perfect genome would correspond to some individual whose miscegenation would be something similar to an Amerindian.

Yuiza: "The Perfect Genome"

The closest individual and therefore the most similar to the "perfect genome" is an individual that corresponds to a Puerto Rican woman, and we can relate it to the Taino India known as Yuiza. A native woman, regarded as A strong woman and that it would represent the entire indigenous mestizo population. The fact that the “perfect genome” has its maximum similarity with this population makes all the sense, given that the Puerto Rican population is a highly mixed population between native Indians and Caucasian European population, and this variability is what we would find in the considered “genome perfect".

However, let's not forget that it is a Designed "perfect genome". The perfect genome does not correspond to any particular population, given that the gene pool is not yet sufficiently mixed, and although it looks a lot like the Puerto Rican population, it is not exactly the same. 

Do you want to learn more about Yuiza's story and the whole genome study?

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