CYTOGEN 2 Flashcards

1
Q

recognized set of symptoms that characterize a given disorder

A

syndrome

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2
Q

is illness caused by
infectious disease, dietary, or environmental factors, not caused by inheritance of mutant genes.

A

disease

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3
Q

This type is caused by
changes or mutations that occur in the DNA sequence of one gene

A

Single-gene

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4
Q

single gene is also called

A

Mendelian or monogenic)

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5
Q

This type is caused by a
combination of environmental factors and mutations in multiple genes

A

Multifactorial

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6
Q

Multifactorial is also called

A

complex or polygenic

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7
Q

, distinct structures made up of DNA and protein,
are in the nucleus of each cell.

A

Chromosomes

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8
Q

Some types of major chromosomal abnormalities can be detected by ______________ examination.

A

microscopic

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9
Q

is a common disorder that occurs when a person has three copies of chromosome 21.

A

Down syndrome or trisomy 21

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10
Q

This relatively rare type of genetic disorder is caused by mutations
in the non-chromosomal DNA of mitochondria

A

Mitochondrial

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11
Q

are small round or
rod-like organelles involved in cellular respiration and found in the cytoplasm of
plant and animal cells

A

Mitochondria

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12
Q

occurs when genes are unable to work properly

A

Disease

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13
Q

inability to see color

A

Achromatopsia

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14
Q

reduction in adrenal gland function

A

Adrenal Hypoplasia Congenita

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15
Q

no melanin pigment in eyes, skin and hair

A

Albinism/Hypopigmentation

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16
Q

degenerative disease starting with memory loss

A

Alzheimer’s

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17
Q

poor or indistinct vision

A

Amyblopia

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18
Q

immunodeficiency disorder

A

Ataxia Telangiectasia

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19
Q

brain development disorder

A

Autism

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20
Q

Fatal, autosomal recessive neurodegenerative disorder

A

Batten Disease

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21
Q

progressive vision loss

A

Best’s Disease

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22
Q

physical disability in human development

A

Cerebral Palsy

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23
Q

formation of abnormal hemoglobin molecules

A

Cooley’s Anemia/Thalassemia

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24
Q

progressive disability due to multisystem failure

A

Cystic Fibrosis

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25
Q

autosomal recessive disorder of the renal tubules

A

Cystinosis

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26
Q

Impairment of cognitive ability, physical growth & facial appearance

A

Down Syndrome

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27
Q

disorder of the autonomic nervous system

A

Epidermolysis Bullosa

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28
Q

(deficiency of the enzyme glucocerebrosidase

A

Gaucher’s Disease

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29
Q

disease of the optic nerve

A

Glaucoma

30
Q

(inefficient control over blood clotting or
coagulation

A

Hemophilia/Bleeding Disorders

31
Q

abnormal body movements

A

Huntington’s Disease and Hurler Syndrome

32
Q

(small testicles and reduced fertility

A

Klinefelter Syndrome

33
Q

fatal degenerative disorder of nervous system

A

Krabbe Disease

34
Q

is defined as the modification of the genetic information of living organisms by
direct manipulation of their DNA rather than by the more indirect method of breeding

A

Genetic engineering

35
Q

Genetic engineering is also called as

A

gene cloning, recombinant DNA technology or gene manipulation

36
Q

is the general name for taking a piece of one DNA and combining it with
another strand of DNA

A

Recombinant DNA

37
Q

Recombinant DNA is also sometimes referred to as

A

“chimera”

38
Q

TRANSFORMATION
o First step in transformation is to ____________________ to be inserted to a vector.
o Second step is to cut that piece of DNA with a restriction enzyme and then ligate
the DNA insert into the vector with _______________

A

select a piece of DNA, DNA ligase

39
Q

Non-Bacterial Transformation
o This is a process very similar to Transformation, which was described above.the
only difference between the two is that non-bacterial does not use bacteria such
as ___________ for host

A

E.coli

40
Q

In ___________, the host cells are bombarded with high velocity
microprojectiles, such as particles of gold or tungsten that have been coated
with DNA

A

biolistics

41
Q

In ______________, the DNA is injected directly into the nucleus of the cell being
transformed.

A

microinjection

42
Q

is the process of transfection, which is equivalent to transformation except a phage (a virus that infects a bacteria) is used instead
of bacteria

A

Phage Introduction

43
Q

_____________________ depend upon the gene being surrounded by a collection
of signal which provide instructions for the transcription and translation of the gene by the cell.

A

Protein expressions

44
Q

Areas where recombinant DNA will have an impact

A

Better Crops, Prevention and cure of sickle anemia

45
Q

is the process of identifying and isolating DNA from living or dead cell and
introducing it into another living cel

A

Genetic engineering

46
Q

examples are exonuclease and endonucleases

A

Enzymes

47
Q
  • it is a fragment
A

Foreign DNA/Passenger DNA-

48
Q

is a treatment that involves altering the genes inside your body’s cells to stop
disease.

A

Gene therapy

49
Q

is the insertion of genes into an individual’s cells and tissue to treat a disease,
such as a hereditary disease in which a deleterious mutant allele is replaced with a functional
one

A

Gene therapy

50
Q

A ___________________________ within the genome to replace a nonfunctional gene. This approach is most common to repair genes

A

normal gene may be inserted into a nonspecific location

51
Q

An abnormal gene could be swapped for a normal gene through ______________________ to repair genes

A

homologous recombination

52
Q

The abnormal gene could be repaired through ____________________, which returns
the gene to its normal function.

A

selective reverse mutation

53
Q

is used to replace the entire mitochondria that carry defective
mitochondrial DNA

A

Spindle transfer

54
Q

cells with healthy genes may be introduced in the
affected tissue, so that the healthy gene overcomes the defect without affecting the
inheritance of the patient

A
  • Patient therapy
55
Q

The genetic constitution of embryo at the postzygotic level is altered so that the inheritance is altered

A

Embryo Therapy

56
Q

Conditions or disorders that arise from mutations in a single gene
are the best candidates for gene therapy

A
  • Multigene disorders
57
Q

loss of vision

A

Leber Congenital Amaurosis

58
Q

progressive degeneration of the white matter of the brain)

A

Leukodystrophies

59
Q

progressive muscle weakness

A

Muscular Dystrophy

60
Q

(disorder affecting lipid metabolism)

A

Neimann-Pick Disease

61
Q

benign hamartomatous polyps in gastrointestinal tract

A

Peutz-Jeghers Syndrome

62
Q

deficiency in enzyme phenylalanine hydroxylase

A

Phenylketonuria

63
Q

accelerated aging

A

Progeria

64
Q

dropping upper eyelid or breasts)

A

ptosis

65
Q

abnormal, rigid, sickle shape of red blood cells, abnormal hemoglobin

A

sickle cell anemia

66
Q

Abnormal bone and cartilage development

A

Skeletal Dysplasias

67
Q

(incompletely formed spinal cord

A

Spina Bifida

68
Q

(usually affects nervous tissue of the brain)

A

Tachy-Sachs Disease

69
Q

premature aging

A

Werner Syndrome

70
Q

“elfin” facial appearance, with low nasal bridge

A

William’s Syndrome