CYTOGEN 2

Question 1

recognized set of symptoms that characterize a given disorder

Answer 1

syndrome

Question 2

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

Answer 2

disease

Question 3

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

Answer 3

Single-gene

Question 4

single gene is also called

Answer 4

Mendelian or monogenic)

Question 5

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

Answer 5

Multifactorial

Question 6

Multifactorial is also called

Answer 6

complex or polygenic

Question 7

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

Answer 7

Chromosomes

Question 8

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

Answer 8

microscopic

Question 9

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

Answer 9

Down syndrome or trisomy 21

Question 10

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

Answer 10

Mitochondrial

Question 11

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

Answer 11

Mitochondria

Question 12

occurs when genes are unable to work properly

Answer 12

Disease

Question 13

inability to see color

Answer 13

Achromatopsia

Question 14

reduction in adrenal gland function

Answer 14

Adrenal Hypoplasia Congenita

Question 15

no melanin pigment in eyes, skin and hair

Answer 15

Albinism/Hypopigmentation

Question 16

degenerative disease starting with memory loss

Answer 16

Alzheimer’s

Question 17

poor or indistinct vision

Answer 17

Amyblopia

Question 18

immunodeficiency disorder

Answer 18

Ataxia Telangiectasia

Question 19

brain development disorder

Answer 19

Autism

Question 20

Fatal, autosomal recessive neurodegenerative disorder

Answer 20

Batten Disease

Question 21

progressive vision loss

Answer 21

Best’s Disease

Question 22

physical disability in human development

Answer 22

Cerebral Palsy

Question 23

formation of abnormal hemoglobin molecules

Answer 23

Cooley’s Anemia/Thalassemia

Question 24

progressive disability due to multisystem failure

Answer 24

Cystic Fibrosis

Question 25

autosomal recessive disorder of the renal tubules

Answer 25

Cystinosis

Question 26

Impairment of cognitive ability, physical growth & facial appearance

Answer 26

Down Syndrome

Question 27

disorder of the autonomic nervous system

Answer 27

Epidermolysis Bullosa

Question 28

(deficiency of the enzyme glucocerebrosidase

Answer 28

Gaucher’s Disease

Question 29

disease of the optic nerve

Answer 29

Glaucoma

Question 30

(inefficient control over blood clotting or coagulation

Answer 30

Hemophilia/Bleeding Disorders

Question 31

abnormal body movements

Answer 31

Huntington’s Disease and Hurler Syndrome

Question 32

(small testicles and reduced fertility

Answer 32

Klinefelter Syndrome

Question 33

fatal degenerative disorder of nervous system

Answer 33

Krabbe Disease

Question 34

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

Answer 34

Genetic engineering

Question 35

Genetic engineering is also called as

Answer 35

gene cloning, recombinant DNA technology or gene manipulation

Question 36

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

Answer 36

Recombinant DNA

Question 37

Recombinant DNA is also sometimes referred to as

Answer 37

“chimera”

Question 38

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 _______________

Answer 38

select a piece of DNA, DNA ligase

Question 39

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

Answer 39

E.coli

Question 40

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

Answer 40

biolistics

Question 41

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

Answer 41

microinjection

Question 42

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

Answer 42

Phage Introduction

Question 43

_____________________ 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.

Answer 43

Protein expressions

Question 44

Areas where recombinant DNA will have an impact

Answer 44

Better Crops, Prevention and cure of sickle anemia

Question 45

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

Answer 45

Genetic engineering

Question 46

examples are exonuclease and endonucleases

Answer 46

Enzymes

Question 47

- it is a fragment

Answer 47

Foreign DNA/Passenger DNA-

Question 48

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

Answer 48

Gene therapy

Question 49

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

Answer 49

Gene therapy

Question 50

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

Answer 50

normal gene may be inserted into a nonspecific location

Question 51

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

Answer 51

homologous recombination

Question 52

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

Answer 52

selective reverse mutation

Question 53

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

Answer 53

Spindle transfer

Question 54

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

Answer 54

* Patient therapy

Question 55

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

Answer 55

Embryo Therapy

Question 56

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

Answer 56

* Multigene disorders

Question 57

loss of vision

Answer 57

Leber Congenital Amaurosis

Question 58

progressive degeneration of the white matter of the brain)

Answer 58

Leukodystrophies

Question 59

progressive muscle weakness

Answer 59

Muscular Dystrophy

Question 60

(disorder affecting lipid metabolism)

Answer 60

Neimann-Pick Disease

Question 61

benign hamartomatous polyps in gastrointestinal tract

Answer 61

Peutz-Jeghers Syndrome

Question 62

deficiency in enzyme phenylalanine hydroxylase

Answer 62

Phenylketonuria

Question 63

accelerated aging

Answer 63

Progeria

Question 64

dropping upper eyelid or breasts)

Answer 64

ptosis

Question 65

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

Answer 65

sickle cell anemia

Question 66

Abnormal bone and cartilage development

Answer 66

Skeletal Dysplasias

Question 67

(incompletely formed spinal cord

Answer 67

Spina Bifida

Question 68

(usually affects nervous tissue of the brain)

Answer 68

Tachy-Sachs Disease

Question 69

premature aging

Answer 69

Werner Syndrome

Question 70

“elfin” facial appearance, with low nasal bridge

Answer 70

William's Syndrome