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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?

A

Karyotype

25
Q

What are some clinical syndromes resulting from gross abnormalities?

A

Trisomy 21- Down’s
Trisomy 13
Turner syndrome
Klinefelters syndrome
Cri du Chat syndrome
Wolf-Hirschorn Syndrome

26
Q

What % of Down’s synderom cases result from nondisjunction and are mostly associated w/ late maternal age?

A

95%

27
Q

What are some features associated with down’s syndrome?

A

Hypodontia
Slanted eyes
Fissured tongue
Shorter stature
Varied intelligence levels
Macroglossia
Abnormal teeth shape

28
Q

What characterizes Trisomy 13?

A

Abnormalities in various organs
70% die within 7 months
Bilateral cleft lip and palate
Microphthalmia or anophthalmia

29
Q

Characteristics of turners syndrome

A

Short stature
Webbing of neck
Edema of hands and feet
Low hairline
Abnormal aorta
Sparse body hair

30
Q

Characteristics of Kleinfelters syndrome

A

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
Q

Characteristic of Cri du Chat and Wolf-Hirschorn syndroms

A

Abnormalities caused by chromosome deletion

32
Q

What is lack of penetrance?

A

When an individual carries a gene without presenting any clinical manifestation

33
Q

What does penetrance refer to?

A

of individuals affected

34
Q

What does expressivity pertain to?

A

The degree to which an individual is affected

35
Q

How is autosomal- dominant inheritance transmitted?

A

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
Q

How is autosomal-recessive inheritance transmitted?

A

Individual exhibiting trait must be homozygous for the gene
Both parents must be carriers of the train
All children would be equally affected

37
Q

What does homozygous mean?

A

Having two identical alleles for a specific gene or genes

38
Q

What is X-linked inheritance?

A

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
Q

What is genetic heterogeneity?

A

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
Q

What is multifactorial inheritance>

A

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
Q

What are some inherited disorders affecting the gingiva and periodontium?

A

Cyclic Neutropenia
Papillon-Lefevre Syndrome
Focal palmoplantar and gingival hyperkeratosis
Gingival fibromatosis

42
Q

What is cyclic neutropenia?

A

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
Q

What is Papillon-Lefèvre Syndrome?

A

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
Q

What is Focal Palmoplantar and Gingival Hyperkeratosis?

A

Marked hyperkeratinization of labial and lingual gingiva

Band-like and a few mm wide

45
Q

What conditions is gingival fibromatosis seen in?

A

Epilepsy
Developmental disorders
Laband Syndrome

46
Q

Inherited disorders affecting the jaw and face

A

Cherubism
Ellis van Creveld
Cleidocranial disorder
Garner syndrome
Mandibular Dustosis
Nevoid basal cell carcinoma
Osteogenesis imperfecta
Toris mandibular
Toris palatinus
Maxillary exostosis

47
Q

Clinical manifestation of cherubism

A

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
Q

Ellis–van Creveld Syndrome: Oral Manifestations

A

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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