T5M1 Flashcards

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1
Q

Primary goal of genome sequence projects

A

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

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2
Q

DNA polymorphisms

A

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

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3
Q

DNA polymorphisms reside

A

mostly in non-coding regions of DNA

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4
Q

DNA polymorphisms are useful because they allow for

A

assembly of high-density genetic maps/DNA markers

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5
Q

DNA markers are detectable using

A

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

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6
Q

DNA markers are useful for

A

identify individuals and show relatedness such as in DNA fingerprinting

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7
Q

One of the most common types of genetic variation

A

SNP’s

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8
Q

SNPs are often found

A

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

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9
Q

Technique that is employed to detect SNP genotypes

A

DNA microarray analysis

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10
Q

Analyzing SNPs using DNA microarray analysis is done by

A
  • 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
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11
Q

VNTR’s

A

variations in short sequences of DNA that are repeated in tandem

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12
Q

Variable number of tandem repeats can be identified utilizing

A

PCR and gel electrophoresis analysis

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13
Q

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

A

individuals based on their respective DNA profiles

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14
Q

DNA fingerprinting utilizes variable number of tandem repeats because

A

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

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15
Q

The HbS (sickle cell) mutation

A

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

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16
Q

CNV’s

A

variations in gene copy number

17
Q

Where do CNV’s occur?

A

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

18
Q

Copy number variations can be identified
based on

A

relative fluorescence intensities that
are detected during DNA microarray analysis