Talk:Unique-event polymorphism

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single-nucleotide polymorphisms (SNP) and UEPs

The following line in the article is challenged and needs a proper citation.
"They are usually single-nucleotide polymorphisms (SNP) – the replacement of one letter by another in the DNA sequence, and the terms UEP and SNP are often loosely used interchangeably."

I suspect some likely original research and fact issues.

COMMENTS:
The article was started on 28 Jan 2007 and included the following line:
"The mutations considered to be UEPs are usually single nucleotide polymorphisms -" and it had no citation for it.

The second version added a link to the External Links section. The ISOGG Y-DNA Tree was renamed the "Y-DNA UEP Index" even though that web page mentions nothing about UEPs.

While two references were later added to the article, but none supports the statement(s) above.

1) Evolution. Barton, Nicholas H. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press. 2007. ISBN 9780879696849. OCLC 86090399.
2) Garrigan, D.; Hammer, F. (Sep 2006). "Reconstructing human origins in the genomic era". Nature Reviews Genetics. 7 (9): 669–680. doi:10.1038/nrg1941. ISSN 1471-0056. PMID 16921345.

The first version adding those basic citations was by: https://wiki.riteme.site/wiki/User_talk:76.16.176.166 In reviewing their edits many if not most were reverted. And some complained that the edits were "disruptive." And it was only about 6 and 8 years later someone cleaned up the sources cited by that user.

Reference 1) is specifically for the line:
Generally, UEP is an allele for which all copies derive from a single mutational event.

Reference 2) is specifically for the following paragraph:
The discovery and widespread testing of new UEPs has been the key to the increasingly detailed analysis of the patrilineal and matrilineal ancestry of mankind into more distinct family trees of Y-DNA and mtDNA haplogroups. UEPs in X and autosomal chromosomes are also used to trace genealogy, to extend the time ranges available for Y-DNA and mtDNA.
And the cite focuses on the different models of determining the age of such UEP events.
See also: https://pubmed.ncbi.nlm.nih.gov/16921345/ and https://www.nature.com/articles/nrg1941

AH! I think I see what someone did. They conflated UEP with all Polymorphisms like Single Nucleotide Polymorphisms.

On the last link cited, under "Key Points" is the following:

Non-African populations have reduced diversity and fewer rare polymorphisms than African populations, suggesting a history of bottlenecks. By contrast, African populations do not exhibit the predicted patterns of polymorphism after a speciation bottleneck.

The word "polymorphism" means having many forms. In simple words, we can define polymorphism as the ability of a message to be displayed in more than one form. ... This is called polymorphism. Polymorphism is considered as one of the important features of Object Oriented Programming. [as in Computer programing]
https://www.geeksforgeeks.org/polymorphism-in-c/

I found the following in my continued searching for the definition of genetic polymorphism.

Polymorphism involves one of two or more variants of a particular DNA sequence. The most common type of polymorphism involves variation at a single base pair. Polymorphisms can also be much larger in size and involve long stretches of DNA. Called a single nucleotide polymorphism, or SNP (pronounced snip), scientists are studying how SNPs in the human genome correlate with disease, drug response, and other phenotypes.

Polymorphism, by strict definitions which hardly anybody pays attention to anymore, is a place in the DNA sequence where there is variation, and the less common variant is present in at least one percent of the people of who you test. That is to distinguish, therefore, polymorphism from a rare variant that might occur in only one in 1,000 people. A polymorphism, it has to occur in at least one in 100 people. Polymorphisms could be not just single-letter changes like a C instead of T. They could also be something more elaborate, like a whole stretch of DNA, that is either present or absent. You might call that a copy number variant; those are all polymorphisms. But this is basically a general term to talk about diversity in genomes in a species.
Francis S. Collins, M.D., Ph.D.
https://www.genome.gov/genetics-glossary/
NIH - National Human Genome Research Institute

Jrcrin001 (talk) 18:36, 21 June 2020 (UTC)[reply]