Genetics
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| genetics | inheritance and expression of inherited traits
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| syndrome | distinctive association of signs and symptoms occurring together
some syndromes inherited, others aren't
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| genotype | the genetic composition
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| phenotype | observable appearance (expression of genotype)
refers to physical, biochemical, physiologic traits of individual
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| where are genes found? | on chromosomes
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| where are chromosomes found? | nucleus of the cell
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| what does DNA do? | directs production of amino acids, polypeptides and proteins by the cell
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| (T/F)DNA has the ability to duplicate itself | True..duh
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| what are the two categories of normal cell division? | mitosis, meiosis
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| what is mitosis? | process of cellular division in a somatic cell during a part of the cell's life span called mitotic cycle
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| what are somatic cells? | all cells in the body except ova and spermatozoa
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| what are the 4 stages of mitosis? | prophase, metaphase, anaphase,telophase
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| what happens during prophase? | chromosomes lining up toward metaphase
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| what happens during metaphase? | chromosomes at the equatorial plane of the cell
long and short arms joined at centromere
ea. identical half is called chromatid
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| what happens during anaphase? | chromatids are in process of splitting
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| what happens during telophase? | cytokinesis occurs
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| what is meiosis(reduction division), and how many chromosomes are left afterwards? | 2-step process of cell division
primitive germ cells reduce their chromosome number by half and become germ cells, 46 chromosomes are left
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| what is a diploid? | primitive germ cells that have 2 chromosomes for ea. pair
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| what is a haploid? | mature germ cells that have half the number of germ cells
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| meiosis-oogenesis | process of formation of female germ cells (ova)
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| meiosis-spermatogenesis | process of formation of spermatozoa (sperm)
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| Lyon hypothesis | during early period of embryonic development, genetic activity of one of the X chromosomes in ea. cell of a female embryo is inactivated
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| what is a Barr body and how does it appear | condensed chromatin of inactivated X chromosome, which is found at the periphery of nucleus of cells in women
appears as dark dot at periphery of nucleus
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| what are the molecular compositions of chromosomes? | Deoxyribonucleic acid
Ribonucleic acid
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| what is DNA? | template that carries all genetic information
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| nucleotide | basic unit of DNA
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| what are the 4 bases found in DNA, and what are their pairings? | Adenine/Thymine
Guanine/Cytosine
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| what shape is DNA? | double helix
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| codon | a sequence of 3 bases
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| what does a codon code for? | amino acid
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| what do one or more polypeptides form? | protein
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| what do several amino acids form? | polypeptide
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| what shape is RNA? | single strand
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| how is mitochondrial DNA inherited? | maternally
-passed from mother to offspring regardless of sex
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| what are the 4 types of RNA? | Messenger, Transfer, Ribosomal, Heterogeneous
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| what does mRNA do? | carries message for DNA to ribosomes in cytoplasm
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| what does tRNA do? | transfers amino acids from cytoplasm to mRNA
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| what does rRNA do? | combines w/ several polypeptides to form ribosomes
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| what does hnRNA do? | precursor to mRNA, found w/in nucleus
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| what are name 5 clinical syndromes resulting from gross chromosomal abnormalities? | trisomy 21, trisomy 13, turner syndrome, klinefelter syndrome, cri du chat syndrome/wolf-hirschhorn syndrome
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| what is the most frequent trisomy? | trisomy 21, Down syndrome
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| what are characteristics of trisomy 21? | slanted eyes, fissured tongue, hypodontia (abnormally shaped teeth, crowded teeth)
gingival + perio. dis. 90%
>30% have <3 abnormalities
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| what are name 5 clinical syndromes resulting from gross chromosomal abnormalities? | trisomy 21, trisomy 13, turner syndrome, klinefelter syndrome, cri du chat syndrome/wolf-hirschhorn syndrome
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| what is the most frequent trisomy? | trisomy 21, Down syndrome
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| what are characteristics of trisomy 21? | slanted eyes, fissured tongue, hypodontia (abnormally shaped teeth, crowded teeth)
gingival + perio. dis. 90%
>30% have <3 abnormalities
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| what is trisomy 13 characterized by? | multiple abnormalities in various organs
characteristics: bilateral cleft lip+palate, microphthalmia/anophthalmia(small eyes/no eyes)
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| how many die w/in the first 7 months of life with trisomy 13? | 70%
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| what is Turner syndrome? | female karyotype, one X chromosome
charact.:short stature, webbing of neck, edema of hands and feet
smear lack Barr bodies
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| characteristics of Klinefelter syndrome | from nondisjunction of X chromosome
male phenotype
maxilla underdeveloped
XXXY, XXXXXY- ># of chromosomes, more pronounced clinical manifestations
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| what are 2 syndromes cause by deletion? | cri du chat and wolf-hirschhorn
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| what is cri du chat syndrome? | deletion on short arm of chromosome 5
mental retardation
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| what is wolf-hirschorn syndrome? | deletion on short arm of chromosome 4
cleft palate, IQ <30
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| name the patterns of inheritance | autosomal dominant inheritance, autosomal recessive inheritance, x-linked inheritance (dominant, recessive-Lyon hypothesis), genetic heterogeneity
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| 4 examples of molecular chromosomal abnormalities | inherited disorders affecting the ginigva and periodontium, inherited disorders affecting the jawbones and face, inherited disorders affecting the oral mucosa, inherited disorders affecting the teeth
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| name inherited disorders affecting the ginigva and periodontium | cyclic neutropenia, papillon-lefevre syndrome, focal palmoplantar+ginigval hyperkeratosis, ginival fibromatosis,laband syndrome,ginigval fibromatosis w/ hypertrichosis epilepsy+mental retardation syndrome,ginigval fibromatosis w/ multiple hyaline fibromas
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| what is cyclic neutropenia? | cyclic decrease # neutrophils, 21-27 days cycles, neutropenia 2-3 days
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| manifestations of cyclic neutropenia | ulcerative gingivitis, hypertrophic gingivitis, can lead to perio. dis., fever, malaise, sore throat
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| what is the tx for cyclic neutropenia? | antibiotics, frequent apptmnts to remove local irritants and reduce oppertunistic infections
only treat when in remission
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| what is papillon-lefevre syndrome? | autosomal recessive
destruction of perio. tiss. (both dentitions), palmar+plantar hyperkeratosis, premature tooth loss by 14 yrs
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| what is the tx for papillon-lefevre syndrome? | retinol controls/improves hyperkeratinization
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| what is focal palmoplantar and ginigval hyperkeratosis | autosomal dominant
hyperkeratinization of palms, soles, labial and lingual ginigva
mccallons festoons, free gingiva and oral cavity normal
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| what is type of inheritance is isolated gingival fibromatosis? | autosomal dominant
no other assoc. abnormalities
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| what is the tx for gingival fibromatosis? | frequent apptmnts/intervals
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| what is Laband syndrome-gingival fibromatosis? | autosomal dominant, ginigval fibromatosis, fucked up ear and nose, frog=like toes and fingers
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| what is gingival fibromatosis w/ hypertrichosis epilepsy and mental retardation syndrome | autosomal dominant
hypertrichosis-excessive hair growth (eyebrows, extremities, genitals, sacral region)
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| what is gingival fibromatosis w/ multiple hyaline fibromas? | autosomal dominant
hypertrophy of nail beds
multiple hyaline fibrous tumors nose,chin,head,back,fingers,thighs,legs
tumors--->shortening muscles
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| ginigval fibromatosis is also known as what? | Murray Puertic Drescher syndrome
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| name the inherited disorders affecting the jawbones and face | cherubism,ellis-van creveld syndrome,cleidocranial dysplasia,gardner syndrome, mandibulofacial dysotosis,nevoid basal cell carcinoma syndrome,osteogenesis imperfecta, torus mandibularis, torus palatinus, maxillary exotosis
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| what is cherubism? | autosomal dominant
marked penetrance in males
bilaterial facial swelling 1.5-4year old
CONDYLES NEVER AFFECTED
pseudoanodontia
facial deformity for life
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| how does cherubism appear radiographically? | "soap bubble" or multiocular appearance
-areas occupied by fibrous CT w/ multinucleated giant cells
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| what is chondroectodermal dysplasia? | autosomal recessive
affects dwarfs,polydactylylism
Vshaped notch in upperlip replaced by abnormal centrally located tooth
most teeth conical shape w/ enamel hypoplasia
fusion of anterior portion of max. gingiva to lip from canine to canine
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| what is chondroectodermal dysplasia also known as? | ellis-van creveld syndrome
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| what is cleidocranial dysplasia? | autosomal dominant
fontanellas remain open, cranium develops mushroom shape
premaxilla underdeveloped=pseudoprognathism
supernumerary teeth, mutliple cysts b/c impacted teeth
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| what is gardner syndrome? | osteomas
possible hypercementosis
odontomas
intestinal plays malignant at +30yrs
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| what is gardner syndrome also known as? | familial colorectal polyposis
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| mandibulofacial dysostosis | AD incomplete penetrance
mouth is fishlike
deaf b/c lack of otic ossicles
high palate
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| nevoid basal cell carcinoma syndrome | *Gorlin Syndrome
AD high penetrance
mild hypertelorism+prognathism, affects nose, eyelids, cheeks head/neck
observed on skin
multiple cysts in jaw
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| osteogenesis imperfecta | 70% AR
mutations after collagen
blue sclera
teeth appear translucent
enamel breaks off from defective dentin
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| torus mandibularis | AD
unilaterl, bilateral
may be multilobuated
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| torus palatinus | AD
most common in females
may be multilobular
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| maxillary exotosis | AD
buccal aspects of maxilla
<common on mandbile
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| inherited disorders affecting the oral ucosa | isloated cleft palate+lip w/ or w/o cleft palate
hereditary hemorrhagic telangiectasia
multiple mucosal neuroma syndrome
neurofibromatosis of Von Recklinghausen
peutz-jeghers syndrome
white sponge nevus
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| isolated cleft palate+lip w/ or w/o cleft palate | AD
may occur as component syndrome
cleft lip-palate+lip puits most common syndrome
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| congenital lip pits | 3mm diameter
bilateral
may exude saliva
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| hereditary hemorrhagic telangiectasia | aka. Osler Rendu Parkes Weber Syndrome
AD
multiple capillary dilations of skin+mucocus membranes
bleeding
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| neurofibromatosis of Von Recklinghausen | AD
Cafe au lait pigmentation
tumors on lateral borders of tongue
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| peutz-jeghers syndrome | AD
multiple malignant macular pigmentations (skin, nose, eyes_
assoc. w/ gastrointerestinal polyposis
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| white sponge nevus | aka. cannon disease, familial white folded mucosal dysplasia
AD
whtie, corrugated, soft, floding, buccal mucosa
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| inherited disorders affecting the teeth | amelogenesis imperfecta
dentiogensis imperfecta
dentin dysplasia
hyphidrotic ectodermal dysplasia
hypophosphatasia
hypophosphatemic vitamin D-resistant rickets
pegged/absent max. lateral incisors
taurodontium
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| amelogensis imperfecta | affects enamel
NO assoc. w/ systemic defects
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| what |
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