MOLECULAR DIAGNOSTICS TEST
GUIDE QUESTIONS WITH COMPLETE
ANSWERS
Single nucleotide polymorphism (SNPs) - ANSWER-SNPs are a one base pair
change in nucleotide sequence between individuals. Many SNPs are not within
exons, so they do not affect proteins, and therefore don't lead to disease. If they are
in exons, and sit within the wobble position, they still may have no change on the
amino acid sequence of that protein. Only those SNPs that cause either a premature
termination of the protein or an amino acid substitution that alters the tertiary
structure of the protein would be linked to disease state.
Example:
Individual 1: AAATTTTAA
Indivdual 2: AAATATTAA (the underlined sequence is the SNP
Short tandem Repeat (STRs) - ANSWER-STRs (short tandem repeats) are
sequences 1-13 bp in length that are copied multiple time.
Example:
ATCATCATCATCATC - is a 3 bp sequence -ATC- copied 5 times.
Variable number tandem repeats (VNTRs) - ANSWER-VNTRs (variable number
tandem repeats) only differ in the fact that the sequence that is repeated is 14-500
bps long instead of 1-13.
Micro RNAs (miRNA) - ANSWER-regulatory RNAs
control gene expression by pairing with complementary sequences in mRNAs and
inhibit translation
affect gene expression, cell development, and defense
Small interfering RNA (siRNAs) - ANSWER-functional intermediates of RNA
interference
defense in eukaryotic cells against viral infections
How many hydrogen bonds between adenine and thymine? - ANSWER-Two
How many hydrogen bonds between guanine and cytosine? - ANSWER-Three
Pyrimidines - ANSWER-Thymine and Cytosine; single ring structure
Purines - ANSWER-Guanine and adenine; double ring structure
Overall charge of DNA - ANSWER-Negative; due to oxygen in the phosphate
backbone
DNA sequence is always read : - ANSWER-5'-3'
GUIDE QUESTIONS WITH COMPLETE
ANSWERS
Single nucleotide polymorphism (SNPs) - ANSWER-SNPs are a one base pair
change in nucleotide sequence between individuals. Many SNPs are not within
exons, so they do not affect proteins, and therefore don't lead to disease. If they are
in exons, and sit within the wobble position, they still may have no change on the
amino acid sequence of that protein. Only those SNPs that cause either a premature
termination of the protein or an amino acid substitution that alters the tertiary
structure of the protein would be linked to disease state.
Example:
Individual 1: AAATTTTAA
Indivdual 2: AAATATTAA (the underlined sequence is the SNP
Short tandem Repeat (STRs) - ANSWER-STRs (short tandem repeats) are
sequences 1-13 bp in length that are copied multiple time.
Example:
ATCATCATCATCATC - is a 3 bp sequence -ATC- copied 5 times.
Variable number tandem repeats (VNTRs) - ANSWER-VNTRs (variable number
tandem repeats) only differ in the fact that the sequence that is repeated is 14-500
bps long instead of 1-13.
Micro RNAs (miRNA) - ANSWER-regulatory RNAs
control gene expression by pairing with complementary sequences in mRNAs and
inhibit translation
affect gene expression, cell development, and defense
Small interfering RNA (siRNAs) - ANSWER-functional intermediates of RNA
interference
defense in eukaryotic cells against viral infections
How many hydrogen bonds between adenine and thymine? - ANSWER-Two
How many hydrogen bonds between guanine and cytosine? - ANSWER-Three
Pyrimidines - ANSWER-Thymine and Cytosine; single ring structure
Purines - ANSWER-Guanine and adenine; double ring structure
Overall charge of DNA - ANSWER-Negative; due to oxygen in the phosphate
backbone
DNA sequence is always read : - ANSWER-5'-3'
