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COH Review Questions And Answers
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SDHB pathogenic variant ~ Associated with malignant abdominal paraganglioma. MEN type 2 ~ Associated with medullary thyroid cancer, RET Proto-Oncogene pathogenic variants, and pheochromocytoma. SDHD ~ Imprinted maternally, with the region of the DNA inherited from the mother being si...

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  • August 8, 2024
  • 9
  • 2024/2025
  • Exam (elaborations)
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  • coh review questions and answers

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COH Review Questions And
Answers

Nitrogenous bases of the triplet DNA code


✓~ Thymine, Guanine, Adenine, and Cytosine are the four nitrogenous bases that

form the triplet DNA code.




Codon


✓~ A sequence of three nucleotides that code for a specific amino acid.




Allele


✓~ One version of a gene at a given locus.




Intron


✓~ Non-coding segment of DNA absent from the mature messenger RNA.




Exon

, ✓~ Coding segment of DNA present in mature messenger RNA.




Gene


✓~ A hereditary unit that occupies a specific position within the genome.




SNP


✓~ A benign nucleotide alteration seen in > 1% of the given population.




Microsatellite


✓~ Repetitive segment 2 to 4 nucleotides long between or within a gene.




Missense mutation


✓~ A single base pair substitution that results in a different amino acid at that

position.




Nonsense mutation


✓~ A single base pair substitution that results in a premature stop codon.

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