How Do Mutations Affect Health And Tooth Development- Exam IV

Question 1

The 3 nucleotide sequence: codon that specifies different amino acids:

Answer 1

Genetic code

Question 2

Properties/ principle of the genetic code that many amino acids are encoded by multiple 3 nucleotide codons, as such- changes in the nucleic acid sequence may or may not alter the resulting amino acid:

Answer 2

Degenerative/ redundant genetic code

Question 3

Mutation that results in increased function or new function in a protein:

Answer 3

Gain of function

Question 4

Mutation that results in a decrease or absence of function:

Answer 4

Loss of function

Question 5

Reduced gene dosage resulting in insufficient protein being made and diminished functioning of the cell:

Answer 5

Haploinsufficiency

Question 6

Mutation resulting in an altered protein that reduces or inhibits the function of another normal protein in the cell:

Answer 6

Dominant negative mutation

Question 7

Because genetic disorders represent a continuom of diseases, even if a disease is largely caused by the environment there may be _____ effective the outcome

Answer 7

Genetic factors

Question 8

3 examples of environmentally caused disease:

Answer 8

1. Influenza
2. Measles
3. Infectious disease

Question 9

3 examples of disease that have equally environmental and genetic influences:

Answer 9

1. Diabetes
2. CV diseases
3. Osteoporosis

Question 10

2 examples of diseases fully caused by genetic factors:

Answer 10

1. Cystic fibrosis
2. Hemophilia A

Question 11

Represent the largest number of mutations that have been identified that relate to disease:

Answer 11

Missense and nonsense

Question 12

Mutations that result in either lower amounts, no function, or enzyme deficiencies:

Answer 12

Loss of function mutations

Question 13

Haploinsufficiency is a subcategory of:

Answer 13

Loss of function mutations

Question 14

Because you have two copies of each autosomal gene if one copy is expressed and the other is not due to a disease causing mutation, this is called:

Answer 14

Haploinsufficiency

Question 15

Haploinsufficiency results in the amount of products to be producing being _____ compared to when no mutation is present:

Answer 15

About 50 % decrease

Question 16

Some haploinsufficiency diseases may result in in _____ while in other cases it may result in_____.

Answer 16

No disease & disease

Question 17

Example of a disease caused by a haploinsufficiency mutation:

Answer 17

Marfans syndrome (deals with fibrillin)

Question 18

A mutation whose gene product adversely affects the normal wild type gene product within the same cell, usually by dimerizing with it:

Answer 18

Dominant negative mutation

Question 19

A dominant negative mutation is a subcategory of:

Answer 19

Loss of function mutations

Question 20

In the cases of polymeric molecules such as collagen, the dominant negative mutations are often _____ than the mutations causing the production of no gene products (Cancer)

Answer 20

More deleterious

Question 21

Osteogenesis imperfecta is an example of a:

Answer 21

Dominant negative mutation

Question 22

Charcot-Marie- tooth sensory neuropathy & cherubism are examples of:

Answer 22

Gain of function mutations

Question 23

Over 300 genes identified that have mutations associated with: (3)

Answer 23

1. Tooth patterning
2. Morphogenesis defects
3. Differentiation defects

Question 24

As a collective group ____ genetic diseases are the most common

Answer 24

Craniofacial

Question 25

Of all known genetic disease, craniofacial disease account for about:

Answer 25

30%

Question 26

What is the hallmark of autosomal recessive diseases

Answer 26

Consanguineous mating

Question 27

Answer 27

1. Unaffected male 2. Unaffected female 3. Mating (single bar) 4. Consanguineous mating (double bar) 5. Identical twins 6. Deceased female 7. Lost pregnancy 8. Affected male 9. Affected female 10. Fraternal twins 11. Autosomal heterozygous carrier 12. X-linked carrier

Question 28

What does an arrow indicate on a family pedigree?

Answer 28

Proband (first case identified)

Question 29

What cannot be ruled out even in the absence of consanguineous matings?

Answer 29

Autosomal recessive diseases

Question 30

If the number of affected & unaffected individuals at each generational level is about 50/50, this suggests:

Answer 30

Dominant type of trait

Question 31

To rule out if the trait is autosomal or sex linked, you should look at:

Answer 31

Female to male & male to female transmission

Question 32

What are valuable tools in trying to categorize genetic disease:

Answer 32

Pedigrees

Question 33

If you see male to male transmission of a trait in affected individuals, you know the trait is not moving on the:

Answer 33

X-chromosome

Question 34

The developmental signaling pathways that drive _____ are also critical in the development of _____.

Answer 34

Tooth development : many other organs

Question 35

Tooth development defects should perhaps be thought of as a potential _____ for other _____ that manifest later in life

Answer 35

Risk factor; diseases

Question 36

There are numerous malocclusion syndromes that can be ______ or ______.

Answer 36

Inherited or non-inherited

Question 37

Pierre-robin, treater collins, and Marfan syndrome are all examples of:

Answer 37

Malocclusion syndromes

Question 38

Crouson, apert, pfeiffer, and clefting syndromes are all examples of:

Answer 38

Craniofacial malformaitons

Question 39

Sclerosteosis and van Bushcem’s High bone mass and OPPG Paget’s disease Are all examples of:

Answer 39

Bone mass traits

Question 40

Dentinogenisis imperfecta and amelogenesisis imperfecta are both examples of:

Answer 40

Tooth development disorders

Question 41

A very large category of genetic disease is _______ which encompasses a lot of different mutations: Abnormal nails Abnormal/missing teeth Absent or very thin hair Foul smelling nasal discharge Absent tears Decreased pigment Etc.

Answer 41

Ectodermal dysplasia

Question 42

More than the correct number of teeth:

Answer 42

Supernumerary teeth

Question 43

With supernumerary teeth _____ is very common

Answer 43

Tooth impaction

Question 44

With supernumerary teeth, multiple impacted teeth its:

Answer 44

Very rare

Question 45

Both ___ and ____ give rise can give rise to supernumerary teeth:

Answer 45

Syndromic & and nonsyndromic disease

Question 46

Another associated disease that coincident or contributing to the supernumerary phenotype:

Answer 46

Syndromic disease

Question 47

If you had measles as a child which gave rise to supernumerary teeth:

Answer 47

Syndromic

Question 48

When you don’t have a different disease associated with the supernumerary teeth, just strictly teeth issues:

Answer 48

Non-syndromic

Question 49

Cleidocranial dysplasia, Gardner’s syndrome, Trichorchino phalanges syndrome, clef lip and palate are all examples of:

Answer 49

Syndromic associated disease

Question 50

Cleidocranial dysplasia is a caused by a mutation in:

Answer 50

RUNX2 gene

Question 51

A master regulator of osteoblastogenesis and bone formation:

Answer 51

RUNX2 gene

Question 52

Disease characterized by the delayed closure of the sutures, aplastic or hypoplastic clavicle formation, short stature, and dental abnormalities:

Answer 52

Cleidocranial dysplasia

Question 53

Refers to a condition of fewer teeth:

Answer 53

Tooth agenisis

Question 54

Most common human developmental craniofacial anomaly:

Answer 54

Tooth agenesis

Question 55

Missing 1 to 5 teeth excluding the 3rd molars:

Answer 55

Hypodontia

Question 56

Missing 6 or more teeth excluding the 3rd molars

Answer 56

Oligodontia

Question 57

Missing all teeth, very severe, very rare, mostly syndromic:

Answer 57

Anodontia

Question 58

Worldwide, the prevalence rate: Hypodontia: 3rd molars: Primary teeth:

Answer 58

6.4% (ranging 4.4 to 13.4) 22.6 % (5.3-56%) 0.1-2.4%

Question 59

There are over 60 conditions that we know of listed in OMIM of tooth agenesis that are considered:

Answer 59

Syndromic associated

Question 60

The most common forms of tooth agenesis is:

Answer 60

Non syndromic

Question 61

Associated phenotypes of tooth agenesis: (5)

Answer 61

1. Conical crown shape 2. Molar Taurodontism 3. Enamel hypoplasia 4. Transposition 5. Canine misposition

Question 62

Increased pulp chamber:

Answer 62

Taurodontism

Question 63

The etiology of tooth agenesis is really due to ____ be _____ actions between _____ and ____.

Answer 63

Synergistic & antagonistic Odontogenic epithelium & mesenchyme

Question 64

Tooth development is directed by variable expression of:

Answer 64

Specific genes & transcription factors

Question 65

Over 300 genes that are known to be expressed throughout:

Answer 65

Odontogenesis

Question 66

Two of the most commonly mutated genes in tooth development:

Answer 66

MSX1 and PAX9

Question 67

AXIN2 mutation impairs ____ in humans results in tooth agenesis and colorectal cancer.

Answer 67

WNT/B-catenin singaling

Question 68

Stabilizes the amorphous Ca-P phase, control of apatite crystal morphology and organization, & control of enamel thickness:

Answer 68

Amelogenin

Question 69

Amelogenins have the ability to self-assemble into nano sphere and thereby guide:

Answer 69

HAP crystal formation/growth

Question 70

Cell adhesion proteins, controls cell differentiation, maintains rod integrity

Answer 70

Ameloblastin

Question 71

Cooperates with amelogenin to control mineral nuclear ion and elongated growth

Answer 71

Enamelin

Question 72

Digests enamel proteins during maturation stage facilitated their removal and hardening the final layer of enamel

Answer 72

Kallikrin 4

Question 73

Cleaves amelogenin, ameloblastin & enamel at the secretory stage to produce stable intermediates with defined functions

Answer 73

MMP-20

Question 74

When you have mutation in ename, this will give to:

Answer 74

Amelogenesis imperfecta

Question 75

When you have mutations in the proteins that give rise to dentin, this will give rise to diseases collectively called:

Answer 75

Dentinogenisis imperfecta

Question 76

A disorder of tooth development; causes teeth to be unusually small, discolored, pitted or groove, and prone to rapid wear or breakage:

Answer 76

Amelogenesis impoerfecta

Question 77

Amelogenesis imperfecta is a condition that can affect:

Answer 77

Primary & permanent dentition

Question 78

Type 1 collagen, SIBLING family proteins, Dentin sialophosphoproteins, Dentin matrix protein 1, bone sialoprotein, Osteopontin, MEPE are all:

Answer 78

Dentin ECM molecules

Question 79

Dentin ECM molecule which is the major component found in dentin:

Answer 79

Type 1 collagen

Question 80

Small integrin-binding ligand N-linked glycoproteins:

Answer 80

SIBLING family of proteins

Question 81

Dentin ECM molecule that immediately is cleaved after secretion into DSP, DGP, and DPP

Answer 81

Dentin sialophosphoproteins (DSPP)

Question 82

Dentin ECM molecule that plays a role in biomineralization:

Answer 82

Bone sialoprotein

Question 83

Dentin ECM molecule produced by odontoblasts and early-stage osteocytes:

Answer 83

Dentin matrix protein 1 (DMP1)

Question 84

Dentin ECM molecule that functions in HA binding and contain an RGD motif; mineralization inhibitor

Answer 84

Osteopontin

Question 85

Dentin ECM molecule that functions in matrix extracellular pohopglycoprotein, contain an RGD motif and in bone appears to be an inhibitor of mineralization.

Answer 85

MEPE

Question 86

Occurs in people who have osteogenesis imperfecta. The primary teeth tend to be more severely affected than the permanent teeth.

Answer 86

Type 1 dentinogenesis imperfecta

Question 87

Usually occurs in people without other inherited disorders. The primarily dentition are usually more effected

Answer 87

Type 2 dentinogenesis imperfecta

Question 88

Usually occurs in people without other inherited disorders. Both dentitions are equally effected; dentin is extremely thin and the pulp chamber is extremely enlarge. These teeth are often referred to as shell teeth:

Answer 88

Type 3 dentinogenesis imperfecta

Question 89

Type 1 collagen genes ___ &____ are associated with osteogenesis imperfecta

Answer 89

COL1A1 & COL1A2

Question 90

Dentinogenesis imperfecta type 1 occurs as part of:

Answer 90

Osteogenesis imperfecta

Question 91

A deficiency of _____ has been suggested as a causative factor in dentinogenesis imperfecta

Answer 91

DSPP

Question 92

Mutations in DSPP have been found in both:

Answer 92

Type 2 and 3 dentinogenesis imperfecta

Question 93

Milder dentin defects than in dentinogenesis imperfecta 2 and 3

Answer 93

Dentin dysplasia

Question 94

Gene mutation can broadly bel classified into two categories:

Answer 94

Gain-of-function & loss-of-function