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One of the silent SNPs present in the Northwestern European haplotype that is associated with LP resides within the lactase gene. Genomic DNA and cDNA of the region containing this SNP in an LP heterozygous adult were sequenced. The sequence results are shown.

a. Identify the impact of the SNP on gene expression.
b. Analyze the evolutionary significance of silent SNPs.
c. Compare genomic and cDNA sequences to understand gene regulation.
d. Examine the role of LP in the context of genetic diversity.

1 Answer

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Final answer:

a. Silent SNPs do not have a direct impact on gene expression, but can affect mRNA stability or splicing. b. Silent SNPs have evolutionary significance as genetic markers. c. Genomic and cDNA sequences can provide insights into gene regulation. d. LP is an example of genetic diversity and adaptation.

Step-by-step explanation:

a. The impact of the SNP on gene expression can vary. Silent SNPs, like the one in the Northwestern European haplotype associated with LP, do not result in any change in the amino acid sequence of the protein. They are often found in non-coding regions of the gene or in regions that do not affect gene expression. However, in some cases, silent SNPs can affect mRNA stability or splicing, leading to changes in gene expression.

b. Silent SNPs have evolutionary significance because they do not directly alter protein function. Therefore, they can accumulate in a population without being subject to natural selection. However, they can still serve as genetic markers to track population history and migration, as well as to study human genetic diversity.

c. Comparing genomic and cDNA sequences can provide insights into gene regulation. Genomic sequences represent the entire DNA sequence of an organism, while cDNA sequences represent the expressed genes (mRNA). By comparing these sequences, scientists can identify regulatory elements, such as promoters and enhancers, that control gene expression.

d. LP, or lactase persistence, is the ability to digest lactose, the sugar found in milk, into adulthood. It is caused by a genetic variant in the lactase gene. The role of LP in genetic diversity is that it represents an example of natural selection acting on a genetic trait related to diet and adaptation to different environmental conditions.

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