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22 Cards in this Set
- Front
- Back
- 3rd side (hint)
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AUTOSOMAL DOMINANT
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never skip generations
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X-LINKED DOMINANT
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NO male to male transmission and NEVER skip generations
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X-LINKED RECESSIVE
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NO male to male transmission
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AUTOSOMAL RECESSIVE
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variable
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Steps to take to asses a pedigree
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1) list the 4 possibilities
2) Are any generations skipped? 3) Is there any male to male transmission? 4) ID the inheritance pattern by what remains; if there is more than one possibility then test them with Punnett square |
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de novo mutation
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parents are healthy, but ONE of the progeny undergoes a spontaneous mutation; therefore certain ones of his/her progeny will carry the mutated gene
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mitochondrial inheritance
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only transmitted by females but transmitted to ALL of her children (female and male)
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Leber's optic neuropathy - bilateral blindness with onset sometime after 15 years of age |
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Cystic Fibrosis
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Autosomal recessive;
mutation in CFTR causing defect in chloride trans-membrane movment in epithelial cells |
meconium ileus, viscous mucus, recurrent respiratory infections, high NaCl in sweat and tears, chronic pancreatitis, cholelithiasis, malnutrition |
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Phenylketonuria (PKU)
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autosomal recessive;
unable to metabolize phenylalanine therefore unable to make melanin and the NTs norepi and dopamine |
results in neurotoxicity and lighter complexion |
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Albinism
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autosomal recessive;
inability to make melanin |
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alpha1-antitrypsin deficiency
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autosomal recessive;
deficiency in enzyme that usually functions to inhibit elastase |
liver makes it but unavle to release it from cells (liver destruction), the active elastase destroys primarily the lung (emphysema) |
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Thalassemias, sickle cell anemia
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autosomal recessive;
abnormally structured hemoglobin |
RBC defects - destruction |
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Glycogen storage diseases
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autosomal recessive;
inavility to utilize glycogen normally |
vonGierke disease, Pompe disease, & McArdle disease |
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Mucopolysaccharidoses
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autosomal recessive;
lysosomal storage disease, unable to metabolize glycosaminoglycans (GAGs), critical components to CT |
do or don't cause MR and/or corneal clouding 3 types: 1) Hurler 2) Scheie 3) Hunter (XLR) |
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Hunter (mucopolysaccharidoses)
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X-linked recessive
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sphingolipidoses
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autosomal recessive;
lysosomal storage disease, unavle to metabolize sphigolipids, molecule involved with myelin and the CNS |
6 Major types: 1) Niemann-Pick 2) Krabbe's 3) Gaucher's 4) Tay-Sachs 5) Metachromatic dystrophy 6) Fabry (XLR) |
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Fabry (sphingolipidoses)
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X-linked recessive
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Polycystic kidney disease (infant type)
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autosomal recessive;
kidney cysts + liver cysts in infant; fatal |
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hemochromatosis
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autosomal recessive;
small intestine takes up excessive iron, even with normal diet |
excess iron deposits in liver, pancreas, heart, and skin "bronze diabetes" |
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Chediak-Higashi syndrome
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WBCs have abnormal microtubules
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recurrent infections, lymphoid cancers, partial albinism, neuropathy |
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Bernard-Soulier Disease
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due to lack of GpIb (needed for platelet adhesion to VWF)
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results in excessive bleeding |
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Glanzmann's Thrombasthenia
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lack of GpIIbIIIa (needed for platelet to platelet adhesion)
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results in excessive bleeding |
