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Histology Exam 1 > DNA Repair and How do mutations occur > Flashcards

DNA Repair and How do mutations occur Flashcards

1
Q

Loss or alterations (mutations) of accessary proteins often leads to _____.

A

cancer

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2
Q

_____ are involved in the nomenclature of mutations that tells where it takes palce

A

coordinates

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3
Q

Changes in the nucleotide sequence of a chromosome that caused disease. DNA deletion, insertion, substitution, silent, missense mutations

A

Gene mutation that is responsible for disorders

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4
Q

Unnatural bases are recognized and removed by a specific _______

A

DNA glycosylase

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5
Q

A ___ mutation results in no change where the mutation produces the same amino acid

A

silent

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6
Q

Deamination involves DNA _____ (chemical modification)

A

substitution

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7
Q

Way that a mutation deamination and depurination, most frequent spontaneous chemical reactions.

A

hydrolytic attack

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8
Q

Genes at differ loci are transmitted independently

A

Principle of Independent Assortment

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9
Q

A ____ mutation does not occur in gametes and in not heritable

A

somatic mutation

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10
Q

_______ guides homologous recombination

A

DNA base pairing

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11
Q

Rearrangements/Translocations, Deletions, Insertions, Duplications are _____ disorders

A

Chromosome Disorders

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12
Q

DNA breaks also arise from _____ that become stalled or broken

A

DNA replication forks

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13
Q

_______ facilitate transcription regulation

A

nuclear receptors

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14
Q

______ enhance transcription can be further away

A

Enhancer

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15
Q

About _____ of inherited human disorders are single base mutations

A

1/3

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16
Q

DNA sequence variants of a gene.

A

Alleles

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17
Q

A ___ results in an altered protein

A

frameshift

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18
Q

Sexually reproducing organisms possess genes that occur in pairs and that only one member of this pair is transmitted to the offspring

A

Principle of segregation

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19
Q

Multiple genes, gene-environment are _____ disorders

A

Multifactorial or Complex

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20
Q

DNA of each human cell loses about_____ bases (adenine/guanine) everyday due to their deoxyribose hydrolyzation of N-glycosyl linkages, a spontaneous reaction called depurination

A

5000 purine

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21
Q

____ mutations include radiation and chemicals

A

Induced mutations

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22
Q

DNA breaks often occur from _____ or ______

A

radiation damage; reactive chemicals

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23
Q

each member of a chromosome pair carries the same allele, then the individual is called ______ for that gene

A

homozygous

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24
Q

______ can be repaired by Non-homologous end joining without a template which creates a mutation at the site where the DNA duplexes are joined; Inadvertent joining of two segments from different chromosomes that results in chromosomal translocations, which often give rise to disease; Homologous recombination repairs DNA double strand breaks accurately without loss or alteration of the DNA sequence

A

Double strand DNA breaks

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25
Q

Holiday junctions are commonly found in what process?

A

Homologous recombination

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26
Q

Of the thousands of random changes created every day in the DNA of a human cell by heat, metabolic accidents, radiation of various sorts, and exposure to substances in the environment,______ accumulate as mutations in the DNA sequence

A

only a few

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27
Q

Way that a mutation occurs by the methyl group donor S-adenosyl-methionine

A

Uncontrolled methylation

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28
Q

DNA repair pathway that is how thymine dimers are repaired; large portion of DNA excisied

A

nucleotide excision repair

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29
Q

Cells carefully regulate the use of _____ in DNA repair

A

homologous recombination

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30
Q

each member of a chromosome pair carries a different allele, then the individual is called ______ for that gene

A

heterozygous

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31
Q

Genetic exchange between a pair of homologous DNA sequences

A

Homologous recombination

32
Q

Spontaneous reaction involving the deoxyribose hydrolyzation of N-glycosyl linkages

A

depurination

33
Q

The importance of DNA repair is also demonstrated by the ______ that follows the inactivation of a DNA repair gene.

A

increased rate of mutation

34
Q

____ and _____ hydrolytic reactions, are the two most frequent spontaneous chemical reactions known to create serious DNA damage in cells.

A

Deamination and depurination

35
Q

cytosine to uracil in DNA is estimated to occur at a rate of 100 bases per genome per day.

A

Deamination

36
Q

we now know that fewer than one in _____ accidental base changes in DNA results in a permanent mutation; the rest are eliminated with remarkable efficiency by DNA repair.

A

1000

37
Q

Depurination involves DNA ____ (chemical modification)

A

deletion

38
Q

Disorders that deal with the X and Y chromosome or mitochondrial genome

A

Sex Linked and Mitochondrial

39
Q

Is DNA stable or unstable?

A

Stable

40
Q

____ mutations arise naturally during DNA replication (mitosis) or during meiosis

A

spontaneous mutations

41
Q

Special type of cell division that occurs in sexual reproduction. It involves two successive nuclear divisions with only one round of DNA replication, thereby, producing haploid cells from a diploid cell.

A

Meiosis

42
Q

A ___ results in extra or missing amino acids

A

deletion or insertion

43
Q

DNA repair pathway where a single base changes

A

base excision repair

44
Q

Dominant, Recessive,Codominant are _____ disorders

A

Single Gene Disorders

45
Q

Division of the nucleus of a eukaryotic cell, involving condensation of the DNA into visible chromosome, and separation of the duplicated chromosome to form two identical sets. From Greek mitos, a thread, referring to the threadlike appearance of the condensed chromosomes.

A

Mitosis

46
Q

Process where Unnatural bases are recognized and removed by a specific DNA glycosylase

A

base excision repair

47
Q

Nomenclature of mutations involve what elements?

A

amino acid, genomic/mRNA/protein, coordinates, and substitutions

48
Q

T/F: A number of accessory proteins are involved in control of DNA repair

A

True

49
Q

A ____ mutation is inherited

A

germline

50
Q

_______ is a mechanism to: Accurately repair double strand DNA breaks; Exchange bits of genetic information; Assures accurate chromosome segregation during meiosis

A

Homologous recombination

51
Q

Maintaining the genetic stability that an organism needs for its survival requires _______ and ______ the many accidental lesions that occur continually in DNA

A

an extremely accurate mechanism for replicating DNA and mechanisms for repairing

52
Q

A ___ mutation results in a stop codon being produced and the protein is truncated

A

Nonsense

53
Q

A spontaneous _______ in DNA occurs at a rate of about 100 bases per cell per day

A

deamination of cytosine to uracil

54
Q

an encounter with reactive metabolites produced in the cell (including reactive forms of oxygen, H2O2, -OH, and -O2); exposure to chemicals in the environment; ultraviolet radiation from sun can produce a covalent linkage between two adjacent pyrimidine bases in DNA to form thymine dimers (presented later in this lecture) cause _____

A

DNA damage

55
Q

T/F: Loss of essential proteins needed for repair generally cause cancer

A

False; they are lethal

56
Q

The enzymes catalyzing repair are present at high concentrations in the _____

A

nucleus

57
Q

What are the 2 major DNA repair pathways?

A

base excision repair and nucleotide excision repair

58
Q

These premutagenic lesions (dimers) alter the structure of DNA and consequently inhibit polymerases and _______

A

arrest replication

59
Q

_____ mutations mobile genetic elements that jump around to DNA; can result in protein w altered amino acid sequence or issues with regulation

A

Transposons

60
Q

phenotype of a ______ gene will be observed only in the homozygous state

A

recessive

61
Q

A ___ mutation results in a base pairing mutation where 2 purines bind or 2 pyrimidines bind

A

Transition

62
Q

A ___ mutation results in a single amino acid change

A

Missense

63
Q

Two DNA strands switch partners between two double helices

A

Holliday junction (cross-strand exchange)

64
Q

covalent linkage of two adjacent pyrimidines by UV light from the sun

A

Pyrimidine (C or T) dimer formation

65
Q

Genetic exchange that takes place between a pair of homologous DNA sequences

A

Homologous recombination

66
Q

Most such spontaneous changes in DNA are temporary because they are immediately corrected by a set of process that are collectively called _______

A

DNA repair

67
Q

______ are sequence variants of a gene. You inherit one _____ of each autosomal gene from your mother and one from your father.

A

Alleles

68
Q

An identifiable segment of DNA sequence with a known physical location on a chromosome and enough variation between individuals. Its inheritance and co-inheritance with alleles of a given gene can be traced. Markers can help link an inherited disease with the responsible genes. DNA segments close to each other on a chromosome tend to be inherited together. Markers are used to track the inheritance of a nearby gene
that has not yet been identified but whose approximate location is known. The marker itself may be a part of a gene or may have no known function; used in linkage analysis

A

Genetic Markers

69
Q

The importance of DNA repair is evident from the large investment that cells make in ______

A

DNA enzymes

70
Q

Variation between individuals in a population at specific nucleotides in their DNA sequence.

A

Single nucleotide polymorphisms (SNPs)

71
Q

Dimers may be repaired by _____ or _______ but unrepaired dimers are mutagenic

A

photoreactivation or nucleotide excision repair

72
Q

lose 5000 purine bases (A or G) per day in each cell due to thermal disruption of their N-glycosyl linkages to deoxyribose.

A

Depurination

73
Q

A ___ mutation results in a base pairing mutation of the incorrect pyr/pur

A

Transversion

74
Q

_______ are single base differences at a specific position in the genome; occurring within a gene (can) give rise to an allele. There are hundreds of thousands (millions) in the genome

A

Single nucleotide polymorphisms (SNPs)

75
Q

phenotype of a ____ gene will be observed in the homozygous or heterozygous state

A

dominant

76
Q

Way that a mutation occurs by reactive oxygen species

A

oxidative damage

Histology Exam 1 (6 decks)

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