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SECOND SEM 3rd YEAR > MOL BIO LAB L3 & 4 (Prelim- DNA Mutation) > Flashcards

MOL BIO LAB L3 & 4 (Prelim- DNA Mutation) Flashcards

1
Q

A region of DNA that encodes function

A

Gene

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2
Q

TRUE OR FALSE: Mutation carry the information that determines your trait, which are features or characteristics that are passed on to you or inherited from your parents

A

FALSE. Genes carry the information that determines your trait

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3
Q

One or two or more versions of a gene; an individual inherits two of these for each gene, one from each parent

A

Alleles

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4
Q

Specific physical location of a gene or other DNA sequence on a chromosome

A

Locus

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5
Q

A difference in DNA sequence among
individuals, groups, or populations

A

Genetic Polymorphism

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6
Q

Involves one of two or more variants of a
particular DNA sequence

A

Genetic Polymorphism

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7
Q

This is the most common type of Genetic Polymorphism

A

Variation at a single base pair

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8
Q

If a difference in DNA sequence among individuals has been shown to just be associated with diseases it will usually be called a

A

genetic mutation

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9
Q

Changes in the DNA sequence that have been confirmed to be caused by external agents are also generally called

A

mutations

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10
Q

Polymorphisms arise through?

A

mutations

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11
Q

A permanent alteration of a nucleotide
sequence of a gene

A

Mutation

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12
Q

A change in DNA sequence of the Genome of a particular organism

A

Mutation

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13
Q

The presence of more than one allele at a particular locus in a particular population

A

Polymorphism

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14
Q

Polymorphism is a variant t that is present in at least _____ to ____of a population

A

1% to 2%

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15
Q

Mutations can either be?

A

hereditary or acquired

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16
Q

A physical event so it can happen to just one person so there is a permanent alteration of a nucleotide or sequence of a gene in that one particular person.

But if it’s a population attribute it is?

A

mutation; polymorphism

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16
Q

DNA variants that can occur due to errors in DNA replication or external factors such as UV and chemical

A

mutation and polymorphism

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17
Q

A sequence of two or more DNA based pairs that is repeated in such a way that the repeats lie adjacent to each other on the chromosome

A

Tandem repeats

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18
Q

Generally associated with non-coding DNA

A

Tandem repeats

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19
Q

This type of DNA Polymorphism is used in DNA fingerprinting procedures

A

Tandem repeats

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20
Q

Which does not belong to the group:
Example of standard repeats include
- simple sequence repeats (SSRs)
- microsatellites
- Short Tandem Repeats (STRs)
- mini satellites

A

Short Tandem Repeats (STR’s)

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21
Q

Areas within the genome in which
variation is normal and healthy.

A

Polymorphism

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21
Q

Are very short stretches of DNA that are repeated back to back at various locations throughout the human genome

A

Short Tandem Repeats (STRs)

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22
Q

The maximum number of base pairs in Short Tandem Repeats (STRs)

A

16

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23
Q

For any specific STR, each person will have how many copies?

A

two copies: 1 inherited from the mother at conception and 1 inherited from the father

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24
Q

These are helpful in forensic and paternity testing because these have a lot of natural variations

A

Short Tandem Repeats (STRs)

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25
Q

The analysis of why chromosomes STRs and paternity testing or potential paternal relationships is very important
especially in cases in which?

A

a potential father is not available and sexual assault cases where chromosome STRs are used to identify the male offender

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26
Q

Reported that the male DNA was detectable even in the ratio of?

A

1:2000

That is one male for every two thousand females by Y-chromosome STR analysis

27
Q

A type of polymorphism that is present at a particular nucleotide side

A

Single Nucleotide Polymorphism

28
Q

This may arise from a substitution of one nucleotide by another at a polymorphic site

A

Single Nucleotide Polymorphism (SNPs)

29
Q

The replacement of one purine nucleotide by another purine nucleotide or one pyrimidine by another

A

Transition

30
Q

A SNP may also be a single base insertion or deletion variant referred to as?

A

INDEL

31
Q

A variation in which a segment of DNA can be found in various copy numbers in the Genome of different individuals

A

Copy-number Polymorphism

32
Q

Compared to SNPs, These affect a more significant fraction of the genome and arise more frequently.

A

Copy-number Polymorphism or CNPs

33
Q

Significantly contribute to human evolution, genetic diversity, and an increasing number of phenotypic traits

A

Copy-number Polymorphism or CNPs

34
Q

Can affect phenotypes by alteration of levels of genes and Gene products both at the level of transcription of genomic DNA to RNA message and presumably a translation of the RNA message to the protein product

A

Copy-number Polymorphism or CNPs

35
Q

It can result from DNA copying mistake during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infections by viruses

A

Mutation

36
Q

A mutation that occurs in the eggs and sperm and can be passed on to offspring

A

Germline Mutation

37
Q

A mutation that occur in body cells and are not passed on

A

Somatic Mutation

38
Q

For mutations to affect an organism descendants they must first occur in cells that produce the next generation. In other words there must be?

A

Germline

39
Q

Due to a breakage where a piece of a
chromosome is lost

A

Deletion

40
Q

A change in the structure of a chromosome or where there is a loss or gain part of a chromosome

A

Chromosomal Mutations

41
Q

Chromosome segment breaks up; chromosome segment flip around backwards then segment reattaches

A

Insertion

42
Q

Failure of chromosomes to separate during meiosis and causes the gametes to have too many or too few chromosomes

A

Nondisjunction

43
Q

When a gene sequence is repeated

A

Duplication

44
Q

In addition to translocations, _____
and _________ chromosomes may or may not result in loss of chromosomal material

A

ring; derivative

45
Q

Involves 2 chromosomes that are not homologous and part of one chromosome is transferred to another chromosome

A

Translocation

46
Q

Insertions without ________ of the
inserted regions and ______ will result in gain or loss of DNA

A

duplication; deletions

47
Q

Examples of nondisjunction

A
  • Down syndrome
  • Turner syndrome
  • Kleinfelter syndrome (XXY chromosome)
47
Q

Change in the nucleotide sequence of a gene; may only involve a single nucleotide, maybe due to copying errors, chemical viruses

A

Gene Mutation

48
Q

“Trisomy 21” (three 21st chromosome)

A

Down syndrome

49
Q

Associated with physical growth delays characteristic facial features and mild to moderate intellectual disability

A

Down syndrome

50
Q

45, X; A condition that only affects females wherein a girl is born with only one sex chromosome, an X-chromosome

A

Turner syndrome

51
Q

Can cause a variety of medical and developmental problems including short height, failure of the ovaries to develop, and heart defects

A

Turner syndrome

52
Q

A genetic disorder that affects males, it occurs when a boy is born with one or more extra X chromosome

A

Kleinfelter syndrome (XXY chromosome)

53
Q

In ________ syndrome, most ______ have one Y and One X chromosome having extra X chromosomes can cause them to have some physical traits that are unusual such as weaker muscles, greater height, poor coordination or less body hair and sterility

A

Kleinfelter; Males

54
Q

A change of a single nucleotide; it includes the deletion, insertion, or substitution of one nucleotide in a gene

A

Point Mutation

54
Q

One that does not result in a change of amino acid because of the degeneracy of the genetic code

A

Silent Mutation

55
Q

A substitution that changes according coding for one amino acid to a codon coding for a different amino acid

A

Missense mutation

56
Q

A mutation that results in an amino acid that is similar in function and properties to the original amino acid

A

Conservative type of Missense Mutation

57
Q

Alteration in nucleotide caused the formation of a completely different kind

A

Non-conservative type of Missense Mutation

58
Q

A type of non-synonymous codon change in which a stop codon is formed thereby leading to premature termination of a polypeptide chain and formation of a truncated protein

A

Nonsense mutation

59
Q

An opposite of the nonsense mutation; a non-synonymous codon change that causes the destruction of a stop codon that resulted in an extended polypeptide product

A

Read-through Mutation

60
Q

Inserting or deleting one or more nucleotides. Changes in the “reading frame” like changing the sentence; causes proteins to be built incorrectly

A

Frameshift Mutation

61
Q

Exchanges one base for another or a single chemical letter such as switching an A to G

A

Substitution Mutation

62
Q

In frameshift mutation, this refers to the addition of one or more nucleotide base pairs into the DNA sequence

A

Insertion Mutation

63
Q

Spontaneous isomerization of a nitrogen base to an alternative hydrogen-bonding form, possibly resulting in a mutation

A

Tautomeric Shifts

64
Q

Increases the chance of paring during a replication

A

tautomers

65
Q

Differ by only a single proton shift in the molecule. The shape changes the bonding structure of the molecule and allows the hydrogen bonding with the non-complementary basis for automatic shape mainly to permanent base pair changes and mutations

A

Tautomers

SECOND SEM 3rd YEAR (38 decks)

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