T5M1

Question 1

Primary goal of genome sequence projects

Answer 1

map out each chromosome with high resolution so underlying DNA sequences can be determined

Question 2

DNA polymorphisms

Answer 2

one of two or more alternative forms (alleles) at a chromosomal region (locus) that differs in either a single nucleotide base or have variable numbers of tandem nucleotide repeats in a given population

Question 3

DNA polymorphisms reside

Answer 3

mostly in non-coding regions of DNA

Question 4

DNA polymorphisms are useful because they allow for

Answer 4

assembly of high-density genetic maps/DNA markers

Question 5

DNA markers are detectable using

Answer 5

microarray analysis, PCR and Southern blot, or even DNA sequencing

Question 6

DNA markers are useful for

Answer 6

identify individuals and show relatedness such as in DNA fingerprinting

Question 7

One of the most common types of genetic variation

Answer 7

SNP’s

Question 8

SNPs are often found

Answer 8

scattered throughout the genome and can be found in both noncoding and coding regions

Question 9

Technique that is employed to detect SNP genotypes

Answer 9

DNA microarray analysis

Question 10

Analyzing SNPs using DNA microarray analysis is done by

Answer 10

• oligonucleotides that match the common allele and all possible variant SNP alleles are attached to the glass on the microarray chip
• To detect SNPs, millions of short, single stranded oligonucleotides of known sequence (and which contain a nucleotide base in the middle which is complementary to the SNP allele) are attached to the chip

Question 11

VNTR’s

Answer 11

variations in short sequences of DNA that are repeated in tandem

Question 12

Variable number of tandem repeats can be identified utilizing

Answer 12

PCR and gel electrophoresis analysis

Question 13

The detection of VNTRs with variable lengths can be largely used by researchers to assist in the identification of

Answer 13

individuals based on their respective DNA profiles

Question 14

DNA fingerprinting utilizes variable number of tandem repeats because

Answer 14

while VNTR locations (or loci) are very similar between closely related individuals, they are also variable enough that it is extremely unlikely that any unrelated individuals would have the same VNTRs

Question 15

The HbS (sickle cell) mutation

Answer 15

single nucleotide polymorphism that has occurred in the protein coding sequence of the beta-hemoglobin gene

Question 16

CNV’s

Answer 16

variations in gene copy number

Question 17

Where do CNV’s occur?

Answer 17

noncoding DNA regions, but other copy number variations can be present as many tandem copies of a coding region along a chromosome.

Question 18

Copy number variations can be identified
based on

Answer 18

relative fluorescence intensities that
are detected during DNA microarray analysis