Genetics/nutrition

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molecular bio lab procedure used to amplify a desired fragment of DNA

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Polymerase chain reaction (PCR)

1. denaturation
2. annealing
3. elongation

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used for size separation of PCR products; compared against DNA ladder

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Agarose gel electrophoresis

smaller molecules travel further

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(blotting procedures)

DNA

RNA

protein

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Southern

Northern

Western

can ID: transcription factors, nucleases, histones, etc.

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DNA or RNA probes are hybridized to a chip and a scanner detects the relative amounts of complementary binding.

able to detect SNOs

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microarrays

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rapid immunologic technique for testing antigen-antibody reactivity

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Enzyme-linked immunosorbent assay (ELISA)

positive test result = intense color reaction in test solution

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technique used for specific localization of genes and direct visualization of anomalies (eg microdeletion) at molecular level

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Flourescence in situ hybridization (FISH)

fluorescence = gene present
no fluor = gene deleted

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production of a recombinant DNA molecule that is self-perpetuating

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Cloning

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can inducibly manipulate genes at specific developmental points using an antibiotic-controlled promoter

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Cre-lox system

(to study a gene whose deletion causes embryonic death)

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dsRNA is synthesize that is complementary to the mRNA sequence of interest

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RNAi

when transfected into human cells, dsRNA separates and promotes degradation of target mRNA, knocking down gene expression

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knock-out

knock-in

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removing a gene

inserting a gene

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process in which metaphase chromsomes are stained, ordered, numbered according to morphology, size, arm-length ratio, and banding pattern

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karyotyping

performed on a sample of blood, BM, amniotic fluid, or placental tissue

used to dx chromosomal imbalances

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neither of 2 alleles is dominant

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codominant

blood groups A, B, AB

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nature and severity of phenotype vary from 1 individual to another

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variable expression

NF1 differences in different people

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not all individuals with a mutant genotype show the mutant phenotype

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incomplete penetrance

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1 gene has >1 effect on an individual's phenotype

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pleiotropy

PKU's wide range of unrelated symptoms

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differences in phenotype depend on whether the mutation is of maternal or paternal origin

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imprinting

Prader-Willi / Angelman's syndromes

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severity of disease worsens or age of onset of disease is earlier in succeeding generations

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Huntington's disease

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if a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops.

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loss of heterozygosity

retinoblastoma

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exerts a dominant effect.

a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning

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dominant negative expression

mutation of Tx factor in its allosteric site. nonfunctioning mutant can still bind DNA, preventing wild-type Tx factor from binding

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tendency for certain alleles at 2 linked loci to occur rogether more often than expected by chance.

measured in a population

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linkage disequilibrium

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occurs when cells in the body have different genetic makeup

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mosaicism

can be germ-line mosaic, which may produce disease that is not carried by parent's somatic cells

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random X inactivation in females

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lyonization

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mutations at different loci can produce the same phenotype

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locus heterogeneity

Marfan's syndrome, MEN 2B, homocytinuria >>> marfanoid habitus

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presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease

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heteroplasmy

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offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

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uniparental disomy

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prader-willi and angelman syndromes are the result of inactivation or deletion of genes on which chromosome?

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chromosome 15
(imprinting)

can also be the result of uniparental disomy

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inherited disorder resulting in increased phosphate wasting at proximal tubule?

example of which mode of inheritance?

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Hypophosphatemic rickets
(vitamin D-resistant rickets)

X-linked dominant

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degeneration of retinal ganglion cells and axons >>> acute loss of central vision

example of which mode of inheritance?

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Leber's hereditary optic neuropathy

mitochondrial inheritance; possible heteroplasmy

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short limbs, normal head and trunk size.

where is the defect?
associated with?

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cell-signaling defect of FGF receptor 3

(Achondroplasia)

advanced paternal age

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on which chromosome is the mutation for ADPKD found?

associated with?

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chromosome 16

mitral valve prolapse,
berry aneurysms

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where is FAP located along GI tract predominantly?

Which chromosome is affected?

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Familial adenomatous polyposis

colon (post-puberty)

deletion of APC gene on chromosome 5

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Elevated LDL due to defective or absent LDL receptor; severe atherosclerotic disease early in life

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Familial hypercholesterolemia (hyperlipidemia type IIA)

MI may develop before age 20

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telangiectasia, recurrent epistaxis, skin disclorations, AVMSs

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Hereditary hemorrhagic telangiectasia

(Osler-Weber-Rendu syndrome)

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increased MCHC; hemolytic enemia; splenectomy is curative

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hereditary spherocytosis

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familial tumors of endocrine glans, including those of the pancreas, parathyroid, pituitary, thryoid and adrenal medulla..

associated with which gene?

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Multiple endocrine neoplasias (MEN)

MEN 2A and 2B with ret gene

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cafe-au-lait spots, neural tumors, pigmented iris hamartomas, scoliosis, optic pathway gliomas.

which chromosome is affected?

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Lisch nodules = iris lesions

NF1 (von Recklinghausen's disease)

long arm of chromosome 17

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bilateral acoustic schwannomas, juvenile cataracts

which chromosome is affected?

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NF2

NF2 gene on chromosome 22

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facial lesions, hypopigmented spots on skin, seizures, MR, renal cysts, cardiac rhabdomyomas, astrocytomas, cortical/retinal hamartomas

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Tuberous sclerosis

incomplete penetrance, variable presentation

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hemangioblastomas of retina/cerebellum/medulla

some with multiple bilateral RCC

which chromosome is affected?

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von Hippel-Lindau

deletion of VHL gene (tumor suppressor) on chromosome 3p
>>constitutive expression of HIF and activation of angiogenic growth factors

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Li-Fraumeni syndrome is the result of what genetic defect? what is the mode of inheritance?

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defective p53

AD

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how does the mutation cause damage in cystic fibrosis?

what are some associated presentations with CF?

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mutation >>> abnormal protein folding, >>degradation of channel before reaching cell surface

infertility (bilateral absence of vas def),
ADEK deficiences,
pancreatic insufficiency,
chronic bronchitis,
bronchiectasis,
recurrent pulmonary infections (Psuedomonas, S. aureus)

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What is the preferred treatment for CF?

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N-acetylcysteine to loosen mucous plugs

(cleaves disulfide bonds within mucous glycoproteins

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pseudohypertrophy of calf muscles is the result of what mechanism?

use of Gowers' manenuver...

what is the mutation?

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fibrofatty replacement of muscle

X-linked frame-shift mutation >> deletion of dystrophin gene > accelerated muscle breakdown

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onset in adolescence of progressive muscle weakness...

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X-linked mutated dystrophin gene

Becker's

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what is the cardiac abnormality associated with X-linked defect of FMR1 syndrome?

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mitral valve prolapse

(Fragile X syndrome)

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Give the disease for these trinucleotide repeat expansion diseases...

GAA
CAG
CTG
CGG

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Friedreich's ataxia
Huntington's
Myotonic dystrophy
Fragile X syndrome

(germline expansion in females)

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flat facies
epicanthal folds
simian crease
duodenal atrsia
ASD
increased estriol, inhibin A, b-hCG

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Down syndrome

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clenched hands
micrognathia
low-set ears
prominent occiput
rocker-bottom feet

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Edwards' syndrome

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cleft-lip/palate
holoprosencephaly
polydactyly
microphthalmia

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Patau's syndrome

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Examples of Robetsonian translocation

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Down, Patau's syndrome

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high-pitched crying/mewing, epicanthal folds

which chromosome is affected?

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microdeletion of short arm of chromosome 4

cri-du-chat syndrome

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eflin facies, hypercalcemia/sensitivity to Vitamin D, friendly to strangers, cardiovascular problems

which chromosome is affected?

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microdeletion of long arm of chromosome 7 (incl. elastin gene)

Williams syndrome

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cleft palate, abnormal fascies, thymic aplasia, hypocalcemia secondary to parathyroid aplasia

which branchial pouches are these the result of?

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aberrant development of 3rd and 4th branchial pouches

(22q11 deletion)

DiGeorge; Velocardiofacial syndrome

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arthralgias, fatigue, headaches, skin changes, sore throat, alopecia

result from excess of which vitamin?

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Vitamin A

(also tertogenic -- cleft palate, cardiac abnormalities)

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pyruvate dehydrogenase
alpha-ketoglutarate dehydrogenase
transketolase
branched-chain AA dehydrogenase

all require which vitamin as a cofactor?

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Vitamin B1 (Thiamine)

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confusion, opthalmoplegia, ataxia + confabulation, personality change and memory loss

what is this condition? where is the damage localized in the brain?

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Wernicke-Korsakoff

medial dorsal nucleus of thalamus, mamillary bodies

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polyneuritis, symmetrical muscle wasting

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dry beriberi

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dilated cardiomyopathy, edema

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wet beriberi (c/o high-output cardiac failure)

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what is the cause of Hartnup disease?

other similar effects/conditions with shared etiology?

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Niacin deficiency resulting in decreased tryptophan absorption

malignant carcinoid syndrome (increased tryptophan metabolism)

INH (decreased vitamin B6)

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essential component of CoA and fatty acid synthase

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Vitamin B5 (Pantothenate)

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cofactor used in transamination, decarboxylation reactions,
glycogen phosphorylase,
crystationine synthesis,
heme synthesis,
niacin synthesis from tryptophan

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Vitamin B6 (Pyridoxine)

converted to pyridoxal phosphate

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sideroblastic anemias result from deficiency in ....

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Pyridoxine (Vitamin B6)

also, hyperirritability, peripheral neuropathy, convulsions

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cofactor for homocysteine methyltransferase and metholmalonyl-CoA mutase

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Cobalamin (Vitamin B12)

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phenytoin, sulfonamides and MTX all lead to deficiency of which vitamin?

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Folic acid

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Cofactor for carboxylation enzymes (add 1-carbon group):

1. pyruvate carboxylase
2. acetyl-CoA carboxylase
3. Propionyl-CoA carboxylase

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Vitamin B7 (Biotin)

deficiency caused by antibiotic use or raw eggs

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Antioxidant that facilitates iron absorption (keeps in reduced state); hydroxylation of proline and lysine; necessary for dopamine b-hydroxylase >> dopamine > NE

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Vitamin C (Ascorbic acid)

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define form in:

D2
D3
25-OH D3
1,25(OH)2D3

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ergocalciferol (plants)
cholecalciferol (milk; sun-exposed skin)
storage form
active form

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what is the function of Vitamin D?

What is the presentation of excess Vitamin D?

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increased intestinal absorption of calcium and phosphate; increased bone resorption

hypercalcemia, hypercalciuria, loss of apetite, stupor; seen in sarcoidosis (increased activation of vitamin D by epithelioid macrophages)

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protects erythrocytes and membranes from free-radical damage

deficiency leads to posterior column and spinocerebellar tract demyelination; hemolytic anemia, muscle weakness

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Vitamin E

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delayed wound healing, hypogondasim, decreased adult hair, dysgeusia, anosmia

all result from deficiency of which mineral?

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Zinc

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What is the limiting reagent in ethanol metabolism?

Alcohol dehydrogenase operates via which type of kinetics?

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NAD+

zero-order kinetics
(steady rate)

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(drug) inhibits alcohol dehydrogenase;

antidotes for methanol/ethylene glycol poisoning

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Fomepizole

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(drug) inhibits acetaldehyde deydrogenase

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Disulfiram (Antabuse)

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Ethanol metabolism increases ___________ ratio in liver, causing diversion of pyruvate to ________
and OAA to ________ (thereby inhibiting gluceoneogenesis and stimulating _______ ______ synthesis)

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NADH/NAD+

lactate

malate

fatty acid synthesis (increased ketone bodies)

leads to hypoglycemia and hepatic fatty change (steatosis)

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swollen belly
skin lesions, edema, anemia, liver malfunction (fatty change due to decreased apolipoprotein synthesis)

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Protein malnutrition

Kwashiorkor

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tissue and muscle wasting
loss of subcutaneous fat
variable edema

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Energy malnutrtion

Marasmus

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fatty acid oxidation ??

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mitochondria

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acetyl-CoA production ??

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mitochondria

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TCA cycle

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mitochondria

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oxidative phosphorylation

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mitochondria

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glycolysis

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cytoplasm

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fatty acid synthesis

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cytoplasm

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HMP shunt

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cytoplasm

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protein synthesis (RER)

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cytoplasm

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steroid synthesis

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cytoplasm

(SER)

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heme synthesis

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mitochondria + cytoplasm

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urea cycle

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mitochondria + cytoplasm

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gluconeogenesis

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mitochondria + cytoplasm