Term
|
Definition
Offspring receives 2 copies from one parent and none from the other
Heterodisomy indicates a meiosis 1 error (heterozygous)
Isodisomy indicates a meiosis 2 error (homozygous) |
|
|
Term
| Hardy Weinberg population genetics |
|
Definition
p^2 + 2pq + q^2 = 1
p + q = 1
p^2 = frequency of homozygosity for allele p |
|
|
Term
|
Definition
Paternal allele is not expressed
15q11-q13 deletion
MR, hyperphagia, obesity, hypotonia, hypogonadism |
|
|
Term
|
Definition
Maternal allele is not expressed
MR, seizures, ataxia, inappropriate laughter |
|
|
Term
|
Definition
25% of offspring from 2 carrier parents are affected
Enzyme deficiencies
Usually seen in only one generation |
|
|
Term
|
Definition
Sons of heterozygous mothers have a 50% chance of being affected
No male to male transmission |
|
|
Term
|
Definition
Transmission through both parents
*All female offspring of an affected father are affected
*Hypophosphatemic rickets |
|
|
Term
|
Definition
X linked dominant disorder resulting in inc phosphate wasting at proximal tubule
Results in rickets like presentation |
|
|
Term
|
Definition
Transmitted only through mother
All offspring of affected females may show signs of disease |
|
|
Term
|
Definition
Group of rare disorders resulting from mutations affecting mitochondrial function
Often present with myopathy and CNS dz
*red ragged fibers |
|
|
Term
|
Definition
Defect in FGF receptor 3
Dwarfism, normal trunk size
Assoc Advanced paternal age |
|
|
Term
|
Definition
Defect in PKD1 on chromosome 16
Always bilateral, massive enlargement
Assoc with polycystic liver dz, berry aneurysm, MV prolapse |
|
|
Term
|
Definition
Mutation in APC gene on chromosome 5
Colon covered in polyps after puberty
Progress to cancer unless colon is resected |
|
|
Term
Familial Hypercholesterolemia (AD)
(Hyperlipidemia type 2a) |
|
Definition
Defective or absent LDL receptor
Elevated LDL, cholesterol > 300
Severe atherosclerosis and tendons xanthomas |
|
|
Term
Hereditary hemorrhagic telangiectastia
(Osler-Weber-Rendu Syndrome) |
|
Definition
Inherited disorder of blood easels
Telangiectasia, recurrent epistaxis, skin discolorations, AVMs, high output HF, Fe def anemia |
|
|
Term
| Hereditary spherocytosis (AD) |
|
Definition
Spectrin and ankyrin defects
Hemolytic anemia, Inc MCHC
Splenectomy is curative |
|
|
Term
|
Definition
CAG trinuc repeat disorder on chromosome 4
Progressive dementia, choreiform movements, caudate atrophy and dec levels of GABA and Ach in the brain |
|
|
Term
|
Definition
Fibrillin-1 gene mutation
Pectus excavatum, hypermobile joints, long tapering fingers
Cystic medial necrosis of the aorta > aortic incompetence and dissecting aneurysms
Floppy mitral valves and lens subluxation |
|
|
Term
| NF 1 (von Reckinghausen's dz) (AD) |
|
Definition
NF gene mutation on c17 long arm
Cafe au lait spots, neural tumors, Lisch nodules (iris hamartomas), Scoliosis and optic pathway gliomas |
|
|
Term
|
Definition
NF2 gene on c22
Bilateral acoustic schwannomas, juvenile cataracts
(everything is in "2"s) |
|
|
Term
|
Definition
Ash Leaf spots, cortical and retinal hamartomas, seizures, MR, renal cysts and renal angiomyolipomas
Cardiac rhabdomyomas, astrocytomas |
|
|
Term
| von Hippel Lindau Syndrome (AD) |
|
Definition
VHL gene (tumor suppressor) on c3 (Always on HIF and activation of angiogenic growth factors)
Hemangioblastoma of retina/cerebellum/medulla
Bilateral renal cell carcinomas |
|
|
Term
|
Definition
| Albinism, ARPKD, CF, glycocgen storage diseases, hemochromatosis, mucropolysaccharidoses (except Hunters), PKU, sickle cell, sphingolipidoses (except Fabry's) thalassemias |
|
|
Term
|
Definition
Defect in CFTR gene on c7 (protein misfolding, degredation)
CFTR channel actively secretes Cl in lungs and GI tract and active reabsorbs Cl from sweat
Defect in channel leads to abnormally thick mucus that plugs liver, pancreas and lungs
Pseudomonas and S aureus infections
Meconium ileus and nasal polyps in infants
Bilateral absence of the vas deferense
Fat soluble vitamin deficiencies
Tx: N acetylcystiene to loosen mucus plugs |
|
|
Term
| X linked recessive disorders |
|
Definition
| Brutons agamma, WAD, Fabrys dz, G6pd def, Ocular albinism, Lesch Nyhan, DMD, Hunters, Hemophilia A and B, OTC deficiency |
|
|
Term
|
Definition
Frameshift mutation > del of dystrophin gene
Accelerated muscle breakdown
Weakness in pelvic girdle muscles, pseudoypertrophy of calves
Dystrophin normally helps anchor muscle fibers |
|
|
Term
|
Definition
X linked mutated dystrophin gene
Less severe than Duschenne's
Onset in adolescence or early adulthood |
|
|
Term
|
Definition
Affects methylation of FMR1 gene, Trinuc CGG
Second most common cause of genetic MR (#1=downs)
Macroorchidism, long face with large jaw, large everted ears, autism, mitral valve prolapse |
|
|
Term
|
Definition
Fragile X = CGG
Freidrichs Ataxia = GAA
Huntingtons = CAG
Myotonic dystrophy = CTG |
|
|
Term
|
Definition
Trisomy 21
Duodenal atresia, ostium primum ASD,
Increased risk ALL and alzheimers
Dec AFP and estriol, Inc BhCG and inhibin A |
|
|
Term
|
Definition
Trisomy 18
MR, rocker bottom feet, micrognathia, clenched hands
Death usually occurs within 1 yr of birth
Dec AFP, BhCG, estriol, normal inhibin A |
|
|
Term
|
Definition
Trisomy 13
Severe MR, mircocephaly, rocker bottom feet, cleft lip/palate, holoprosencephaly, polydactyly
Dec BhCG, dec PAPP-A, increased nuchal translucency |
|
|
Term
|
Definition
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs
When the long arms of two chromosomes fuse at the centromere and the 2 short arms are lost |
|
|
Term
|
Definition
Congenital micro deletion of short arm of chromosome 5
Microcephaly, MR, high pitched crying/mewing, epicentral folds, cardiac abnormalities (VSD) |
|
|
Term
|
Definition
Microdeletion of long arm of chromosome 7 (elastin gene)
Elfin facies, intellectial disability, hypercalcemia, well developed verbal skills, extreme friendliness |
|
|
Term
|
Definition
Cleft palate, abnormal facies thymic aplasia > T cell def
Cardiac defects, hypocalcemis
Di George
Vesocadiofacial syndrome
Aberrant development of 3rd and 4th branchial pouches |
|
|
Term
|
Definition
Antioxidant, essential for normal differentiation of epithelial cells into specialized tissues
Found in liver and leafy vegetables
Prevents squamous metaplasia
Used to tx Measles and AML (M3)
D- night blindness and dry skin
OD- arthralgias, fatigue, HA, sore throat, alopecia
Teratogen |
|
|
Term
|
Definition
Cofactor for pyruvate dehydrogenase, aKG dehydrogenase, transketolase and branched chain amino acid dehydrogenase
D- impaired glucose breakdown, leads to ATP depletion, worsened by glucose infusion; Wernicke-Korsakoff, BeriBeri |
|
|
Term
|
Definition
| Polyneuritis, symmetrical Mm wasting |
|
|
Term
|
Definition
| high output cardiac failure, edema |
|
|
Term
| Wenicke-Korsakoff Syndrome |
|
Definition
Confusion, opthalmaplegia, ataxia, confabulation, personality change, memory loss
Damage to the medial dorsal nucleus of thalamus, mammillary bodies |
|
|
Term
|
Definition
Cofactor in oxidation and reduction (FADH2)
D- cheilosis, corneal vascularization, glossitis |
|
|
Term
|
Definition
Constituent of NAD and NADP
*derived from tryptophan
Synthesis requires B6 (pyroxidine) and B2 (niacin)
D- glossitis, pellagra (diarrhea, dermatitis, dementia)
Hartnup dz- dec tryptophan abosorption
Malig Carcinoid syndrome - inc tryptophan metabolism
INH - dec vit B6
OD- facial flushing (pharma doses for hyperlipidemia) |
|
|
Term
|
Definition
Essential component of CoA and fatty acid synthase
D- dermatitis, enteritis, alopecia, adrenal insufficiency |
|
|
Term
|
Definition
Cofactor for transamination decarboxylation reactions and glycogen phosphrylase
Synthesis of: cystathione, heme, niacin, histamine, and NTs
D- convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias (caused by INH and OCPs) |
|
|
Term
|
Definition
Cofactor for carboxylation enzymes:
Pyruvate carboxylase, Acetyl-CoA carboxylase, and propionyl coA carboxylase
D- rare: dermatitis, alopecia, enteritis; cause by antibiotic use or excessive ingestion of raw eggs |
|
|
Term
|
Definition
Converted to THF, for 1 carbon transfer/methylation rxns
Important for synthesis of nitrogenous bases in DNA and RNA
Found in leafy green vegetables, small liver reserve
D- macrocytic, megaloblastic anemia (NO neurologic symptoms)
Caused by phenytoin, sulfonamides and MTX |
|
|
Term
|
Definition
Cofactor for homocysteine methyltransferase and methylmalonyl coA mutase
Found in animal products, very large reserve pool
D- Macrocytic, megaloblastic anemia, hypersegmented PMNs, neurologic symptoms due to abnormal myelin
Deficiency usually caused by malabsorption
Schilling test to determine etiology |
|
|
Term
|
Definition
ATP+methionine= SAM
SAM transfers methyl units
Regeneration of methionine (and thus SAM) depends on folate and B12
Required for the conversion of NE > Epi |
|
|
Term
|
Definition
Antioxidant, facilitates iron absorption by keeping iron in Fe2 in a reduced state
Necessary for hydroxylation of proline and lysine in collagen
Necessary for conversion of DA > NE
Scurvy- swollen gums, hemarthrosis, poor wound healing
OD- Nausea, vomiting, diarrhea, fatigue, sleep problems. Can inc risk of iron tox in predisposed individuals |
|
|
Term
|
Definition
D2- ergocalciferol, D3- cholecalciferol, 25OH - storage form
125 (calcitrol) - active
Increases intestinal absorption of calcium and phosphate, inc bone mineralization
D- Rickets in children, osteomalacia in adults, hypocalcemic tetany
OD- Hypercalcemia, loss of appetite, stupor. Seen in sarcoidosis |
|
|
Term
|
Definition
Antioxidant (protects erythrocytes from damage)
D- incr fragility of erythrocytes, proximal mm weakness, posterior column and spinocerebellar tract demyelination |
|
|
Term
|
Definition
Catalyzes g-carboxylation of glutamic acid resides to make blood clotting factors
D- neonatal hemorrhage with inc PT and aPTT, but normal bleeding time |
|
|
Term
|
Definition
Essential for 100+enzymes
Important in formation of zinc fingers (transcription factor)
Delayed wound healing, hypogonadism, dec adult hair, dysgeusia, anosmia |
|
|
Term
|
Definition
Ethanol >(1) Acetaldehyde >(2) Acetate
1: alcohol dehydrogenase (blocked Fomepizole)
2: acetaldehyde dehydrogenase (blocked Disulfram)
NAD is the limiting reagent |
|
|
Term
|
Definition
Ethanol metabolism increased NADH:NAD ratio in liver, causing diversion of pyruvate to lactate and OAA to malate
Inhibts gluconeogenesis and stimulates fatty acid synthesis |
|
|
Term
|
Definition
Protein malnutrition
Skin lesions, edema, liver malfunction
Small child with a swollen belly |
|
|
Term
|
Definition
| Energy malnutrition resulting in tissue and muscle wasting, loss of SubQ fat and variable edema |
|
|
