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20 Cards in this Set
- Front
- Back
autosomal dominant
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never skips a generation
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x linked dominant
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never skips a generation, no male to male transmision
rare; hyperphsphatemic ricktes:inherited vitamin D resistance, bowed legs incontinentia pigmenti: mini teeth and patchy alopecia |
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autosomal recessive
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variable
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x linked recessive
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no male to male
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steps for genetics pedigree
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1: are any generations skipped
2: is there any male to male transmission |
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de novo mutation
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parents are healthyn but one progeny undergoes mutation.
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mictochndrial inheritance
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transmitted by females to all of her children.
ex. leber's optic neuropathy (bilateral blindness with onset sometime after 15 years of age) |
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cystic fibrosis
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most common lethal genetic dis of caucasians.
mutation in CFTR gene: characterized by a defect in chloride trans-membrane movemnet in epithelial cells clinical: meconium ileus viscous mucus recurrent respiratory infx (staph aureus in first 6 months of life, then pseudomonas auregin.) high NaCl in sweat andtears (positive sweat test) chronic pancreatitis cholelithiasis malnutrition( due to poor bowel function, steatorrhea, loss of fat soluble vitamins) |
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phenylketonurua
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uanalbe to metabolize phenylalanain>buildup of phenylalanain breakdouwn produts (phenylketones), cant make melanin, NE, EPI, dopamine
phenylketones casue neurotoxicity low melanin>lighter complexion |
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albinism
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inabilty to make melanin
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alpha1 antitrypsin def
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inhibit elastase
liver makes elastase but cant release it from the cells>liver destrucion>cirrhosis active elastase destroys lungs>emphysema |
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thalassemaias, sickle cell aneam
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abnormally structured HgB>microcytic anemia, and rbc destruction
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glycogen storage diz
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von Gierke diz (deficiency of glucose 6 phosphatase), pompe diz (deficiency of the lysosomal acid alpha-glucosidase enzyme), McArdle diz (deficiney of myophosphorylase)
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Mucopolysaccharidoses
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lysosomal storage diz
unable to metabolize GAGs, hurler: AR, deficiency of alpha-L iduronidase scheie: AR, hunter (xlinked): deficient (or absent) enzyme, iduronate-2-sulfatase gargoyle like features |
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sphingolipidoses
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unable to metabolze sphinogolipids (involved wiht myelin and CNS)
Niemann pick: AR, sphingomyelinase def. Krabbe's: AR, galactocerebrosidase def. Gaucher's: AR: glucocerebrosidase def Tay-Sachs: AR, hexosaminidase def. metachromatic dystrophy: AR, arylsulfatase A or prosposin Fabry(x linked recessive) |
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polycystic kidney diz (infant type)
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kidney cysts, liver cysts in infant;fatal, liver fibrosis
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hemochromatosis
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small intestine (duodenum) takes up excessive iron even wiht normal diet.
excess iron deposits in liver,pancreas, heart, and skin. - result in cirrhosis, new onset of type 1 like DM, cardiomyopathy (CHF), bronze colored skin Bronze diabetes |
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chediak-Higashi syndrome
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wbc have abnormal microtubles (so faulty cell movement, lysosomal fusion, and non-functional granules)
clinical findings: recurrent infxn development of lymphoid cancers partial albinism neuropathy |
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bernard soulier dis
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results in excessive bleeding
due to lack of GPIb (needed for plateley adhesion to VWF) |
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Glanzmann thromasthenia
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excessive bleeding
lack of GP11B/IIIA (needed for platelet aggregation) |