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SNP Flashcards

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1
Q

what is SNP?

A

single nucleotide polymorphisms - a site in a genome where a single nucleotide is polymorphic among different individuals

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2
Q

what does it mean for a single nucleotide to be polymorphic?

A

it means there is a change in a single nucleotide

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3
Q

SNPs are the smallest kind of change that can occur within a given gene

A

true

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4
Q

SNPs are the most common genetic change

A

true

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5
Q

SNPs represent ____ % of all the variation in DNA sequences that occur among different people

A

90%

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6
Q

how many SNPS would occur in a gene that is about 2000-3000 bp in length?

A

10 polymorphic sites

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7
Q

The high frequency of SNPs in genes indicate that polymorphism is the norm for most human genes

A

true

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8
Q

A DNA locus that has two or more sequence variations , each present at the frequency of 1% or more in a population

A

polymorphism

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9
Q

monomorphic

A

locus is 99% of individuals in a population

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10
Q

what is a common frequency in most species for polymorphisms?

A

1 in 700

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11
Q

about how many loci are in humans?

A

less than 1 million, or around 1 in 3000

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12
Q

what are some types of polymorphisms?

A

SNPs, VNTR, deletions, duplications

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13
Q

what is VNTR?

A

veritable number tandem repeats - includes micro satellites (short tandem sequences - STR) and mini satellites (long sequence repeated)

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14
Q

what is the frequency of STR / microsatellites

A
  • repeat is about 1-6 bp long
  • the whole tandem repeats is less than a couple bp in length
  • found about every 1000 bp in the human genome
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15
Q

why do micro satellites tend to be hotspots for mutation?

A

alterations in the sequences of micro satellites oftentimes escape proofreading of DNA polymerase, so there could easily be a mutation in the number of repeats

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16
Q

what is the frequency of mini satellite

A
  • repeat is about 6-80 bo long

- size of the micro satellite is about 1-20 kip

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17
Q

why are repetitive sequences useful?

A
  • they are used as molecular markers (especially micro satellites) to map the location of genes
  • also useful for studying variation among populations
18
Q

how does VNTR relate to identification?

A

VNTRs show variations in length and can be found on many chromosomes, where each variation acts as an inherited alleles allowing use for identification

19
Q

what are some uses of VNTR?

A

genetics, biology research, forensics, fingerprinting

20
Q

when do STRs (short tandem repeats) occur?

A

when a pattern of two or more nucleotides are repeated and the repeats sequences are next to each other
- pattern ranges from 2-10

21
Q

where in the genome do STRs occur?

A

usually in non-coding intron region

22
Q

what creates a unique genetic profile?

A

the number of STR repeats at a given locus

23
Q

what is the prevalent method for determining genetic profiles in forensic cases?

A

STR

24
Q

what are some applications of VNTR and STR?

A
  • forensics
  • 13 specific STR loci as the standard for CODIS in FBI
  • mass disasters
  • paternity testing
  • military DNA dog tag
  • convicted felon database
  • genetic testing/gene mapping
  • bone marrow transplant follow up
25
Q

what are some characteristics of polymorphisms?

A
  • usually not on a coding region of genome
  • must associate specific fragment with disease or trait
  • many times linked to a disease but NOT the cause of the trait
  • problem?
26
Q

Single nucleotide substitution (SNS)

A

one nucleotides is replaced by another

27
Q

what are some forms of genetic variations?

A

SNS
micro/mini sattelties
deletions/insertaions
changes in chromosomes number, segmental rearrangements and deletions

28
Q

SNPs appear at least once per ____ average intervals

A

0.3-1-kb average intervals

29
Q

for it to be an SNP, it must occur in at least ____ % of the population

A

1%

30
Q

the total number of SNPs is around ___ to ___ million

A

5-10

31
Q

SNPs occur every ___ to ____ bases in human genome

A

300-1000 bases

32
Q

two of every three SNPs involve the replacement of ____ with ____

A

cytosine with thymine

33
Q

SNPs occur in both coding genes and noncoding regions of the genome

A

true

34
Q

many SNPs have no effect on cell function

A

true

35
Q

SNPs can still predispose people to disease or influence repose to drugs

A

true

36
Q

SNP haplotype

A

A set of closely linked genetic markers present
on one chromosome which tend to be inherited
together (not easily separable by recombination)
- haplotype has the advantage in carrying more information about gents-phenotype

37
Q

SNPs in coding regions may ____ the protein structure made by that coding region

A

alter

38
Q

DNA Chips Can Detect SNP Genotypes

(Or Haplotypes) Across An Individuals Genome

A

Millions of DNA sequences are on this chip. Same idea as mapping stars. Pin points/data points, same technology they used.

39
Q

what are the probes in the DNA chip?

A

tethered nucleic acids with known sequence

40
Q

what are the targets in DNA chip?

A

free nucleic acid sample whose purpose is being detected, where the labeled nucleic acid that is washed over the chip

Genetics (12 decks)

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