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