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Inheritance patterns in a popu (1 Viewer)

zizi2003_

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Hey guys, can someone please explain SNPs (single nucleotide polymorphisms) and haplotypes/haplogroups to me in easy terms? :)
 

Leadmen4y

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SNP is the exact same thing as a substitution mutation except that for a substitution mutation to be a SNP, it has to occur in at least 1% of the population. Haplotypes are alleles/genes that are inherited together, presumably because they're closely located or there's genetic linkage.

Haplotypes & SNPs are useful in the identification of lineage or genetic variation between organisms, which you can use to talk about conservation management by maintaining biodiversity for the syllabus dot point in module 5. Another term you could also note down is "genetic markers", which are sequences of DNA on known locus of the chromosome, includes SNPs & also Short Tandem Repeats (STR).
 

zizi2003_

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THANK YOU SO MUCH!!! This makes way better sense now.
Though let's say that the SNP occurs in the introns (non-coding) regions of the DNA sequence, which happens more frequently (apparently), how would it be of any use given there's no phenotypic change observable?
 

Leadmen4y

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THANK YOU SO MUCH!!! This makes way better sense now.
Though let's say that the SNP occurs in the introns (non-coding) regions of the DNA sequence, which happens more frequently (apparently), how would it be of any use given there's no phenotypic change observable?
No worries, happy to help :D

SNP occurs more frequently in the introns in specific organisms (though most) as the only reason for that is because most eukaryotes have a significant higher percentage of introns compared to exons (while prokaryotes have the opposite ratio). Though the phenotypic change is not observable, the alteration of sequence of nucleotides can be identified through DNA analysis/testing, usually using blood sample, or any somatic tissues such as hair.

Also, keep in mind that mutations in introns can have an effect of some magnitude. As introns (promoter, silencer & enhancer) are responsible for regulation of gene expression, positions of introns can also rate of transcription & hence the expression of an gene. As well as that a SNP in the exons can also produce no effect as mentioned earlier, some sets of codons code for the same amino acid so the conformation of the final protein remains the same though the DNA sequences have changed.

Even though some SNPs don't result in any phenotypic change, they can be indicators or a potential risk of diseases such as cancer or be a sign of familial lineage, because when the SNP is inherited the alleles near the SNP are also inherited, hence we know that if a person has a specific SNP, they likely also have the surrounding alleles. That's why for a SNP to be a SNP is has to occur at a specific frequency, as then we can use them for identification to predict the other alleles that may have been inherited along side the SNP.
 

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