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64 Cards in this Set
- Front
- Back
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cause of Androgen Insensitive Syndrome, AIS
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mutations of the gene encoding the androgen receptor.
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Symptoms of complete androgen insensitivity syndrome (CAIS)
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has a female external appearance, and suppressed menstruation.
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Klinefelter Syndrome (47, XXY)
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- males w/two+ X chromosomes
- reduce sexual maturity & secondary sexual characteristic, no sperms - slow in learning - more X = may be metally retarded |
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Diseases related to envirometal stress
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-. bird flu
-. SARS -. H1N1 flu |
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Down Syndrome (trisomy 21
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- mental retardation
- expectancy: mid-teen - abnormal pattern of palm creases, flat face, short stature - assocaited with maternal age |
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Duchenne Muscular Dystrophy
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- X-link recessive, occurs in boys
- Most severe form of musclar Dystrophy - pushing on, climbing up the legs n thighs |
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Disease cause by both Gene & Enviroment
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- conjointed twins
- connate rachitis |
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Genetic Disorder
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cause wholly or partly by genetic factors
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Medical Genetics
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study human genetic variation of medical significance.
the study of chromosomes, and the structure and function of individual genes. |
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Wilson's desease
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- copper build up in body
- attacks liver & CNS - autosomal dominat inheritance |
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Clinical Genetics
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the application to diagnosis and patient care
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Characteristics of genetic disorders
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- congenital (down syndrome)
- mode of inheritance - population distribution (hemophilia) - familial (DMD) - infectious (seed hypo) |
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Classification of Genetic Disorders
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- single-gene disorder
- chromosome disorder -multifactorial disorder - somatic cell genetic disorder - mitochondrial disorder |
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Single gene disorder
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when a mutation alters the singel gene and affect the coded protein
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Chromosome disorder
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large/entire chromosme are missing, duplicated or altered
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Patau Syndrome (trisomy 13)
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- cleft palate, polydactyly, structural eye defects, anomalies of heart & kidney
- mental retardation - commonly death by 3 month |
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Multifactoral Disorder
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mutations in multiple genes, often coupled with environmental causes
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Somatic cell genetic diseases
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result from the altered genetic materials in somatic cells
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Mitochondrial genetic diseases
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mutation of mitochondrial DNA, inheriate from mothers only
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Characteristic of Single Gene disorder
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- exhibit obvious pedigree pattern
- autosomal VS sex-link - dominant VS recessive |
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Li-Fraumeni Syndrome
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- autosomal dominant
- mutation on p53 (tumor supressor gene) - ongoing, various cancer occurs at an individual |
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Sickle cell anemia
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- Affect RBC
- may from clumps inside blood vessels - lead to pain, infection, organ damage |
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Huntington's Diseases
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- autosomal dominant disorder
- neurodegenerative diseases - onset: 35 yrs - lost of mobility & brain function |
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Cystic Fibrosis
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- deletion of 3 base pairs
- autosomal recessive disease - mutation chrom. 7 |
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multifactorial model
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- involve serval loci
- no dominance or recessive - enviroment interact w/genotype to produce final phenotype - loci act in addictive fashion |
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Heritability
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- proportion of phenotypic variation in a population that is inherited among individuals
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50 % Heritiabilty means?
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phenotypic variation is 50% due to genetic variation
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Quantitative genetics
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study of continuous traits and their underlying mechanisms
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The threshold model
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- below threshold trait is not express
- individual above the threshold have the disease |
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Principles of "RISK" analysis in genetics...
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(1) affected member increases, risk increases
(2) Recurrence risk increases with severity of the defect. (3) Consanguinity (近親) slightly increases the risk for an affected one. (4) If the two sexes have a different probability of being affected, the least likely sex, if affected, is the most likely sex to produce an affected offspring. |
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Carter Effect
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one gender need to have a greater numver of susceptaibilty gene than the other. The said gender would be more likely to pass on the disease.
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Schizophrenia
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brain disorder characterized by delusional thinking and unique but unpopular perceptions.
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diabetes mellitus
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- metabolic disorder, autosomal dominat pattern
- characterized by chronic hyperglycaemia (慢性高血糖) - disturb metabolism result in defects in insulin action/serection |
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Sympoms of Diabete Mellitus
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- thirst, polyuria (多尿症), blurring of vision, weight loss.
- ketoacidosis (酮酸中毒) led to stupor (麻木), coma |
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Type 1 Glycaemia
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beta-cell destruction, usually leading to absolute insulin deficiency
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Type 2 Glycaemia
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ranging level of insulin resistance, deficiency, defect, & no insulin.
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bronchial asthma symptoms
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- periodic attackts of wheezing alternation with normal breathing
- alternate btw chronic shortness of breath and worse shortness of breath |
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Bronchial Asthma Risk
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early life exposure to indoor allergens, family history, allergy
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Bronchial Asthma Gene
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- ADAM 33: bronchiole smooth muscles to be hypersensitive
-PHF11 (chrom. 13): regulate B cells <produce IgE, allergic antibody> -TCQ2: T-cell recep. regulate IgE rxn -ADRB3: airway activity -TGFB1: control expression of antibodies |
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Chromosome
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- centromere
- p = short arm, q= long arm - #1 = closest to centromere |
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Fragile X Syndrome
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- cause by change FMRP on chrom. X
- elongated ears & long faces - cause mental retardation |
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Jacob Syndrome, XYY
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- cause no physical difference
- higher than ave. hight - normal testosterone level, sexual development, fertility |
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Edward Syndrome, (Trisomy 18)
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- survive less than 4 months
- overlap 3rd & 4th fingers, cleft lip, clubfoot |
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Chromosomal abnormalities
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- translocation
- deletion - duplication - inversion |
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Cri du Chat Syndrome
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- cause by partial deletion of chrom 5p
- characterized by meowing kittens cry - problems with larynx and nervous system |
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Birth Defects
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abnormalities of structure, function, or body metabolism that are present at birth
cause by gene mutation, chromosome aberration |
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Cause of birth defect
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- genetic: gene mutation, chromosome aberration.
- environment: factors including, chemical (drugs), biological (radiation) and physical (illness) -Others: mostly a combination of genetics and environmnental factors. |
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Thalidomide
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- drug for pregnancy reactions
- cause defect of limbs (phocomelia) |
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Spina bifida
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- birth defect of incomplete development of the spinal cord
- cause by incomplete closure of embryonic neural tube - nerves are under-develop at protruded region = some degree of paralysis and loss of sensation - higher the level of defect, more severe the result - risk increase with high fever, epilepsy drug - occurs at the end of first month |
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spina bifida occulta
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- vertebrate are not completely close
- lesion at site or hair growth - mildest form may not be noticed - back pain |
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meningocele
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- dura mater is forced into the bulge, covered only by skin
- nervous system is undamage |
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myeloschisis (rachischisis)
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- exposing dura mater
- occurs when the spinal canal and backbone didnt close before birth - loss of function of lower extremities, bowel and bladder dysfunction |
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anencephalus
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- occurs when cephalic end of neural tube to close
- result: absence of major brain, skull, scalp - born w/out forebrain |
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Mitochondrial disease
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chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
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Threshold effect
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- number of nutated mtDNA must be above threshold to cause clinical significance
- number of mutated mtDNA needded to cause cell dysfunction varies according to tissue oxidative requirement |
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Mitotic segregation
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- amount of mutant mtDNAs in daughter cells can shift at cell division
- Produces rapid changes of genotype that may lead to crossing of threshold |
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LHON = Leber's; Hereditary; Optic; Neuropathy
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- Male predominance, No relation X-linked genes
- EOM mitochondria: Diffuse increase in number and size; Disorganized cristae - Onset :Midlife: Mean 30 years - painless vision loss pattern, ocular pathology - progression: 4 months - recovery depends on mutation |
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MERRF=Myoclonic Epilepsy; Ragged Red Fibers
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- cause mtDNA point mutation
- onset: Late adolescence, Early adult - affect CNS, earing loss, polyneuropathy, short stature - Lactic acidosis: Variable, Ragged red fibers m. |
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MELAS=Mitochondrial Encephalomyopathy; Lactic Acidosis; Stroke
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- mtDNA pt mutation
- mean onset, 10 yrs; Range, 2-40 yrs - systemic features, myopathy, episodic encephalopathy |
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Kearns-Sayre Syndrome
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- sporadic: most patients, rare familial cases
- PEO; Pigmentary degeneration of retina; Heart block; Mitochondrial myopathy - single large mtDNA deletion |
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Hereditary retinoblastoma
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- autosomal dominant trait
- inherited susceptibility to retinoblastoma - mutation in the 2nd gene, arise during development - mutation occure after birth, result in tumor |
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Oncogenes
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- mutated forms of genes that cause normal cells to grow out of control and become cancer cells
- mutation of proto-oncogenes |
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Tumor suppressor genes
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- normal genes that slow down cell division, repair DNA, triggers apoptosis
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Characterisitc Multi-stage Carcinogenesis
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1. Increased proliferative capabilities
2. Resistance to apoptotic stimuli 3. Resistance to other inducers of cell toxicity 4. Increased life-span |
