The haploid human genome has 3.2 billion bp, but only about 1.2 percent of the genome codes for proteins. Most human genes are subject to alternative splicing, which may account for why there are more proteins than genes. Haplotype mapping to find correlations of specific SNPs with disease and drug susceptibility holds promise for personalized, precision medicine.
learning outcomes
You should be able to:
Describe the characteristics of the human genome and its genes.
Use haplotype information to determine whether a gene is associated with a phenotypic characteristic.
Summarize the use of pharmacogenomics.
How do human cells express a larger number of proteins than is accounted for by the number of protein-
Each human gene has several introns. Alternative splicing of pre-
A patient is prescribed a drug whose metabolism in the body is under the control of known genes and alleles. How could haplotype mapping be used to get information on whether this drug would be effective in this patient?
The human genome sequence has haplotypes that are linked to differential sensitivity to a drug. If the patient’s DNA is isolated and amplified, a classification with regard to the haplotypes can be made, and whether the patient will respond to a particular drug can be determined.
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Genome sequencing has advanced our understanding of biology enormously. High-