AI Article Synopsis
- The study examines how the type and location of genetic markers, specifically SNPs in non-coding regions of the X-chromosome, can provide insights into human population history.
- Researchers sequenced DNA from 16 males in western India, analyzing segments from three genes, which led to the discovery of 29 SNPs that showed neutral evolutionary patterns.
- The findings suggest that these genetic markers can effectively be used to study human demographics and population evolution.
Article Abstract
Background: It has now been well documented that the type (coding, non-coding) and location (nuclear, mitochondrial etc.) of genetic markers heavily influence evolutionary inferences; realistic assumptions can be drawn if multiple putatively neutral DNA fragments spread across the genome are used.
Aim: To infer human population history, Single Nucleotide Polymorphisms (SNPs), located in the non-coding regions of different genes in the X-chromosome have been developed as 'putatively neutral markers'.
Subjects And Methods: A population sample consisting of 16 male individuals from the western part of India was utilized for sequencing eight DNA fragments located in introns of three genes (Duchenne muscular dystrophy, Factor IX and Pyruvate dehydrogenase E1 sub-unit) on the human X-chromosome. PCR amplification and DNA sequencing confirmed the polymorphic status of all the fragments.
Results: Twenty nine SNPs were found to be segregating in the Western Indian population samples. Using these SNPs the nucleotide diversity and demographic parameters of the Western Indian population were estimated. Several tests of neutrality ascertained that all eight fragments evolve putatively neutrally. Further, linkage disequilibrium analyses confirmed this fact.
Conclusion: All eight DNA fragments seem to bear the characteristics to be considered as 'putatively neutral genetic markers' and thus, could be utilized for inference of human population and demographic histories.
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| http://dx.doi.org/10.3109/03014460.2012.689326 | DOI Listing |
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