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241 Oral Pathology > Genetics > Flashcards

Genetics Flashcards

1
Q

What is phenotype?

A

Physical, biochemical and physiologic traits of an individual

Can occur as a result of genetic factors or from a combination of genetic factors and environmental influences

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2
Q

What are chromosomes?

A

Small bodies in the nucleus of a cell that carry the chemical instructions for reproduction of the cell and cell functions

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3
Q

What are the phases of mitosis

A

Prophase
Metaphase
Anaphase
Telophase

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4
Q

What is meiosis?

A

Two-step cellular division of the original germ cell which reduces the # of chromosomes by half

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5
Q

What is the function of mitosis?

A

To create an exact replica of each chromosome to pass to each daughter cell

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6
Q

What does diploid mean?

A

Two pairs of chromosomes

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7
Q

What does haploid mean?

A

Only one set of chromosomes

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8
Q

Are gametes haploid or diploid?

A

Haploid

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9
Q

How many chromosomes do mature germ cells contain?

A

23

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10
Q

What is nondisjunction?

A

Occasionally, both chromosomes that were crossing over during meiosis do not separate and both migrate to the same cell

How conditions like down’s syndrome occur (extra chromosome)

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11
Q

What is trisomy?

A

Extra copy of a chromosome present in the cell nuclei causing developmental anomalies

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12
Q

What is trisomy 21?

A

Down’s syndrome
Trisomy of chromosome 21

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13
Q

What is the Lyon Hypothesis?

A

During early embryonic development, genetic activity of one of the X chromosomes in each cell of a female embryo is inactivated
Inactivated chromosome forms a structure called a Barr Body

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14
Q

What is a nucleotide?

A

Basic unit of DNA

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15
Q

What are the 4 bases found in DNA?

A

Adenine
Guanine
Thiamine
Cytosine

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16
Q

What are the pairings of the 4 bases found in DNA?

A

Adenine and Thiamine (A/T)

Guanine and Cytosine (G/C)

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17
Q

What is a codon? What does it encode?

A

Sequence of 3 bases
Encodes amino acids

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18
Q

What do several amino acids form?

A

Polypeptide

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19
Q

What do several polypeptides form?

A

Protein

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20
Q

Where is mitochondrial DNA inherited from?

A

Maternally inherited regardless of sex of child

21
Q

What has to happen for amino acids, polypeptides and proteins to be produced?

A

DNA has to be transcribed to RNA

22
Q

Where is RNA found in the cell?

A

Nucleus and cytoplasm

23
Q

What is karyotype?

A

Number and visual appearance of the chromosomes in the nuclei of an individual

24
Q

Where can gross abnormalities be observed?

25
What are some clinical syndromes resulting from gross abnormalities?
Trisomy 21- Down's Trisomy 13 Turner syndrome Klinefelters syndrome Cri du Chat syndrome Wolf-Hirschorn Syndrome
26
What % of Down's synderom cases result from nondisjunction and are mostly associated w/ late maternal age?
95%
27
What are some features associated with down's syndrome?
Hypodontia Slanted eyes Fissured tongue Shorter stature Varied intelligence levels Macroglossia Abnormal teeth shape
28
What characterizes Trisomy 13?
Abnormalities in various organs 70% die within 7 months Bilateral cleft lip and palate Microphthalmia or anophthalmia
29
Characteristics of turners syndrome
Short stature Webbing of neck Edema of hands and feet Low hairline Abnormal aorta Sparse body hair
30
Characteristics of Kleinfelters syndrome
Most are from nondisjunction of X chromosome Male phenotype Not detected clinically until puberty: taller than normal, wide hips, development of breasts, lower intelligence levels -Maxilla is slightly hypoplastic
31
Characteristic of Cri du Chat and Wolf-Hirschorn syndroms
Abnormalities caused by chromosome deletion
32
What is lack of penetrance?
When an individual carries a gene without presenting any clinical manifestation
33
What does penetrance refer to?
of individuals affected
34
What does expressivity pertain to?
The degree to which an individual is affected
35
How is autosomal- dominant inheritance transmitted?
Vertically from one generation to the next When a person has a gene for a condition, the risk of having an affected offspring is 50% for each preganancy
36
How is autosomal-recessive inheritance transmitted?
Individual exhibiting trait must be homozygous for the gene Both parents must be carriers of the train All children would be equally affected
37
What does homozygous mean?
Having two identical alleles for a specific gene or genes
38
What is X-linked inheritance?
Genes for a specific trait or condition located on the X chromosome. Woman can be hetero or homozygous for a gene located on the X, while in men it will always be seen clinically since there is only one X chromosome No male to male transmission, only from females
39
What is genetic heterogeneity?
When a condition has more than one inheritance pattern as well as differences in degree of clinical manifestations for each of the inherited varieties
40
What is multifactorial inheritance>
Type of heredity pattern seen when more than one genetic factor is involved Ex: When environmental factors participate in the cause of a condition
41
What are some inherited disorders affecting the gingiva and periodontium?
Cyclic Neutropenia Papillon-Lefevre Syndrome Focal palmoplantar and gingival hyperkeratosis Gingival fibromatosis
42
What is cyclic neutropenia?
Decrease in the number of circulating neutrophils Oral manifestations include: Severe ulcerative gingivitis, gingivostomatitis, ulcerations on tongue and oral mucosa repeated incidence can lead to periodontal disease
43
What is Papillon-Lefèvre Syndrome?
Peripheral blood neutriphils are depressed, chemotaxis is depressed Oral manifestations: Gingiva periodontal inflammatory process develops- edema, bleeding, AB resorption, mobility. Perm and primary dentition lost prematurely Hyperkeratosis of palms and soles of feet
44
What is Focal Palmoplantar and Gingival Hyperkeratosis?
Marked hyperkeratinization of labial and lingual gingiva Band-like and a few mm wide
45
What conditions is gingival fibromatosis seen in?
Epilepsy Developmental disorders Laband Syndrome
46
Inherited disorders affecting the jaw and face
Cherubism Ellis van Creveld Cleidocranial disorder Garner syndrome Mandibular Dustosis Nevoid basal cell carcinoma Osteogenesis imperfecta Toris mandibular Toris palatinus Maxillary exostosis
47
Clinical manifestation of cherubism
Progressive bi-lateral facial swelling Bone lesions resemble central giant cell granuloma Radiographs of jaw reveal "soap bubble" or multilocular appearance Inrceased distance btw the eyes
48
Ellis–van Creveld Syndrome: Oral Manifestations
Fusion of max gingiva to lip from canine to canine Mission centrals Presence of natal teeth Enamel hypoplasia

241 Oral Pathology (13 decks)

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