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38 Cards in this Set
- Front
- Back
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autosomal dominant
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- in heterozygous state
- family hx - M and F equally affected - 50% chance offspring affected - penetrance - freq w/ which abnL gene produces ds - expressivity - degree of abnL seen in diff indiv. |
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x-linked disorders
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- almost all recessive
- transmitted by asymptomatic F hetero carriers |
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ds caused by mutations in structural proteins
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1. Marfan syndrome
2. Ehlers-Danlos syndrome |
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Marfan syndrome
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- autosomal dom
- qual. & quant. defects in fibrillin (collagen & elastin) - affect skeleton, eyes, CV system - eye changes - bilat. disloc. lens, retinal detachment - CV - floppy valve, MV prolapse, AA, aortic disection |
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Ehlers-Danlos syndrome - "human pretzel"
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- autosomal dom
- defect of collagen synth - hypermobile joints, hyperextensible, weak blood vessel walls |
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ds caused by mutation in receptor/transport proteins
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-familial hypercholesterolemia
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familial hyperchol
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- 1 of MC autosomal dom ds
- 1 in 500 - LDL receptor on cell surface deficient - accumulation of chol in plasma - heterozygotes - chol deposits along tendon sheaths - CAD - homozygous - xanthomas in childhood, MI by 15-20 |
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hetero vs. homo FH
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hetero - LDL receptors reduced, plasma chol inc
homo - LDL receptors absent, plasma chol greatly increased |
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cystic fibrosis (transmission)
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autosomal recessive
- abnL in transport protein |
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ds by mutations in enzyme proteins
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1. PKU
2. galactosemia 3. lysosomal storage ds 4. glycogen storage disorders |
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PKU
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1. one of MC inborn errors of metabolism
2. def. absence of hepatic enzyme PAH - failure of conversion of dietary phenylalanine -> tyrosine 3. phenylalanine lvls nL @ birth, but high after 2nd wk 4. MR, musty odor |
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galactosemia
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1. def in galactose-1-phosphate uridyltransferase
2. accumulation of galactose and metabolies 3. inc blood galactose and galactosuria 4. liver - fatty --> fibrosis --> cirrhosis |
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Lysosomal storage ds
a. causes b. types |
a. accum of abnL amts of complex lipids, due to lack of fnxnl lysosomal enzymes
b. 1. tay-sach ds 2. Gaucher ds 3. Niemann-Pick ds |
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tay-sach ds
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1. defect - hexosaminidase
2. involves brain, retina 3. accum - ganglioside 4. motor, mental det. at 6moa 5. cherry red spot; death by 2-3 yoa |
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gaucher ds
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1. defect - glucocerebrosidase
2. accum - cerebroside in RE cells type 1 - brain not involved type 2 - infants, CNS involv., mental det., death at young age |
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Niemann-Pick ds
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1. defect - sphingomyelinase
2. involves - brain, liver, spleen, BM, lymph nodes 3. effect - accum of sphingomyelin 4. cherry red spot in retina |
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Mucopolysaccharidoses
a. what is it 2. types |
a. involvement of mult organs, a/w corase facial feat., clouding cornea, MR, narrowing coronary art.
b. 1. Hurler syndrome 2. Hunter syndrome |
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Hurler syndrome
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1. defect - -L-Induronidase
2. inheritance - auto recessive 3. accum - mucopolysacch - heparan sulfate, dermatan sulfate |
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Glycogenoses
1. what 2. types |
1. accumt of glycogen - cells pale and distended
2. a. von Gierke ds b. McArdle syndrome c. Pompe ds |
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von Gierke ds
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1. defect - G6P
2. tissue - liver, kidney 3. accum - glycogen 4. mortality from liver/kidney failure |
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McArdle syndrome
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1. defect - muscle phosphorylase
2. tissue - mm craps after exercise |
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Pompe ds
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1. defect - glucosidase
2. tissue - heart, CM, cardiac failure by age 2 |
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mild, severe, lethal
von Gierke, McArdle, Pompe |
mild - McArdle
severe - von Gierke lethal - Pompe |
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ds caused by mutations in proteins that regulate cell growth
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neurofibromatosis type 1 & 2
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neurofibromatosis 1
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- auto dom
- MC - 90% - multiple neurofibromas - pigmented skin lesions - Cafe au lait spots - pigmented iris hamartomas - Lisch nodules - most serious complication - transformation of neurofibroma into malig tumor (neurofibrosarcoma) |
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Cafe au lait spots
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pigmented skin lesions
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Lisch nodules
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pigmented iris hamartomas
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neurofibromatosis 2 (acoustic NFM)
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- rare
- bilateral acoustic neuromas - peripheral neuromas w/ cafe au lait spots |
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ds w/. multifactorial (polygenic) inheritance
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- genetic and environmental factors play imp role
- DM, HTN, gout, schizo |
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balanced t
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usually not harmful
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unbalanced t
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small fragments lost (robertsonian t) results in abnL games and zygotes - abnL offspring
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causes of chromosoal disorders
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1. inc maternal age
2. ionizing rad - no safe low dose 3. drugs - anti cancer, thalidomide |
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down syndrome (trisomy 21)
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- MC chromosomal disorder
- extra 21 chromosome (47XX + 21; 47XY + 21) - 1/1550 live births in women <20 yoa - 1/25 live births in women >45 yoa - ventricular septal defect - resp for most death - acute leukemia - survivors - develop Alzheimer ds @ early age |
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Klinefelter syndrome
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- male hypogonadism - most pts w/ 47, XXY
- 15% show mosaic patterns - 46XY/47XXY; 47XXY/48XXXY - small testes, testicular atrophy, infertility, red facial & body hair, gynecomastia |
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turner syndrome
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- female hypogonadism
- 55% absence of 1 X chromosome - short stature, webbing of neck - poor development of F 2ndary sex char - primarily amenorrhea - rudimentary ovaries - fibrous streaks |
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Fragile X syndrome
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- abnLity of X chromosome
- constriction localized to band - transmitted as x-linked rec - predom affects males - MR, long face, large mandible, everted ears, enlarged testes - multiple tendem triplet repeat mutation |
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Leber hereditary optic neuropathy
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- degen neuropathy
- b/L loss of vision - mutation in mitochondrial genes (MG) - carried only in ova |
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Prader-Willi and Angelman syndromes
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- ex of genomeic imprinting
- short stature, obesity, small hands & feet - angelman - happy puppets |
