bioinformatics

1. What is genetic polymorphism?

a) A permanent change in DNA sequence

b) A difference in DNA sequence among individuals or populations

c) A type of protein mutation

d) A process of DNA replication

Which of these is the most common type of genetic polymorphism?

a) Insertions

b) Deletions

c) Single Nucleotide Polymorphisms (SNPs)

d) Sequence Repeats

What are SNPs?

a) Variations at multiple nucleotide positions

b) Variations at a single nucleotide position in the DNA sequence

c) Large structural changes in chromosomes

d) Repeated segments of DNA

Answer: b

What is an insertion in the context of genetic polymorphism?

a) Removal of nucleotides from DNA

b) Exchange of DNA between chromosomes

c) Addition of one or more nucleotides into a DNA sequence

d) A change in a single nucleotide

Answer: c

. What process creates new combinations of genetic material during meiosis?

a) Mutation

b) Recombination

c) Deletion

d) Genotyping

Answer: b

Which of the following is NOT a type of genetic polymorphism?

a) SNPs

b) Sequence Repeats

c) Transcription

d) Deletions

Answer: c

How often do SNPs typically occur in the human genome?

a) 1 in 10 bases

b) 1 in 100 to 300 bases

c) 1 in 1,000,000 bases

d) 1 in 50 bases

Answer: b

What is a deletion in DNA?

a) Addition of nucleotides

b) Removal of one or more nucleotides

c) Substitution of a nucleotide

d) Duplication of a gene

Answer: b

What term describes a broad change in DNA sequence, including SNPs and larger structural changes?

a) Polymorphism

b) Mutation

c) Allele

d) Genotype

Answer: b

Why are polymorphisms important to study?

a) They explain why people vary in traits and disease risk

b) They prevent DNA replication

c) They only affect protein synthesis

d) They are rare and insignificant

Answer: a

1.What is an allele?

a) A specific location on a chromosome

b) An alternative form of a gene or DNA sequence at a locus

c) The complete genetic makeup of an individual d) A type of mutation

Answer: b

How many alleles does an individual have at each chromosomal locus?

a) One

b) Two

c) Three

d) Four

Answer: b

What is a genotype?

a) The physical appearance of an individual

b) The combination of two alleles at a locus

c) A single nucleotide change

d) A type of polymorphism

Answer: b

If an individual has two identical alleles at a locus (e.g., AA), they are:

a) Heterozygous

b) Homozygous

c) Polymorphic

d) Recombinant

Answer: b

What does heterozygous mean?

a) Having two identical alleles (e.g., AA)

b) Having two different alleles (e.g., Aa)

c) Having no alleles

d) Having a single allele

Answer: b

What is a locus?

a) A type of SNP

b) A specific chromosomal location of a gene or DNA sequence

c) A protein-coding region

d) A mutation event

Answer: b

Which of these is an example of a genotype?

a) Brown eyes

b) AA

c) SNP

d) Insertion

Answer: b

Where do the two alleles at a locus come from?

a) Both from the mother

b) Both from the father

c) One from the mother, one from the father

d) Random mutations

Answer: c

What trait might be influenced by a genotype at the hair color gene locus?

b) Black hair

20.What does genotyping determine?

) An individual’s specific alleles at certain DNA locations

What is SNP genotyping?

) Determining SNP loci across the genome or specific regions

What is a coding nonsynonymous SNP?

) A SNP in a gene’s coding region that changes the protein

3.What type of SNP creates a premature stop codon?

b) Nonsense

24.What is a silent SNP?

b) A SNP with no amino acid change due to codon redundancy

25.Where are intronic SNPs located?

) In non-coding regions (introns) of a gene

26.What can a splice site SNP affect?

b) Intron-exon boundaries and protein production

27.Where are SNPs in the 5' UTR or 3' UTR located?

b) In untranslated regions of mRNA

8.What is the effect of SNPs in the 5' or 3' UTR?

b) They affect gene expression or mRNA stability

9.What are genomic/extragenic SNPs?

c) SNPs far from any gene, often in “junk” DNA

30.What percentage of DNA bases are the same in humans?

c) 99.9%

31.What makes a person unique according to the document?

b) The 0.1% different DNA bases

2.Which of these is a harmful effect of SNPs?

b) Diabetes

33.What is a latent SNP variation?

b) Not harmful on its own, apparent under certain conditions

4.How is a base-pair change denoted in SNP nomenclature?

b) Coding DNA sequence

6.What is an example of an SNP accession number?

b) rs123465

37.Which database is associated with SNPs?

d) All of the above

38.What is the purpose of the HapMap Project?

b) To map common haplotypes and genetic variations

What does the 1000 Genomes Project catalog?

b) Human genetic variation, including SNPs

.What does the IUPAC code “R” represent?

) G or A (purines)

What is a key feature of an ideal SNP genotyping platform?

b) High-throughput capacity

.Which method uses restriction enzymes to digest DNA?

b) RFLP-PCR

What is a limitation of RFLP-PCR?

b) Low accuracy

4.What is the TaqMan assay also called?

b) 5'-nuclease allelic discrimination assay

5.What can SNP microarrays detect?

b) Hundreds of thousands of known SNPs

What is Sanger sequencing best known for?

b) Determining nucleotide sequences up to 1000 bp

What is the basis of the SNaPshot assay?

b) Single-base extension (SBE)

How many SNPs can SNaPshot interrogate in a single reaction?

b) Up to 10

49.What is a disadvantage of WES-NGS?

b) High cost

0.What does WES-NGS sequence?

b) Millions of small DNA fragments (exons) in parallel