First Aid: Bio Chem: Pg 84-94

Front 1

What would you use a Polymerase chain reaction test for?

Back 1

Amplify a fragment of DNA
Can be used to ID malignant diseases

Front 2

With the Blotting what do the different directions associated with?
Southern
Northern
Western
Southwestern

Back 2

Southern- DNA
Northern- RNA
Western- Protein
Southwestern- DNA binding proteins

Front 3

What would you use the Microarrays lab technique for?
(Hint: has nothing to do with microwaves and dinner)

Back 3

Used to profile gene expression.
genetic predisposition to a disease, forensic analysis, cancer mutations, etc.

Front 4

Enzyme-linked immunosorbent assay (ELISA) is a lab technique used for what?

Back 4

Antigen-antibody reactivity.
Fun fact- intense color is a positive test.

Front 5

What is Codominance and give an example?

Back 5

Neither of 2 alleles is dominant but both show. Blood type AB

Front 6

What is Variable expression and give an example?

Back 6

The degree the phenotype is expressed varies from one individual to another.
Ex. a disease that kills someone and barley affects another

Front 7

Incomplete penetrance refers to what with genetics?

Back 7

Not everyone who has mutant genotype shows the phenotype

Front 8

What is Pleiotropy?

Back 8

1 gene has more then just one effect on someone's phenotype.
Ex. losing all your vision and your testicles falling off (unrelated but they both suck)

Front 9

What is Imprinting?

Note: if your first thought is twilight, grab the nearest sharp object and insert into right temple.

Back 9

Phenotype depends on weather you got the mutation from maternal or paternal origin.
Ex. Prader Willi vs Angelman's syndrome

Front 10

What is Mosaicism?

Back 10

loss of genetics after fertilization so cells in the body differ.

Front 11

What is Heteroplasmy?

(def an answer to a jepardy question)

Back 11

Both normal and abnormal mtDNA exist so there is variation in the mitochondrial expressed

Front 12

Uniparental disomy for 500 Alex

Back 12

Offspring receives 2 copies of a chromosome from one parent and nothing from the other.

Front 13

Hardy-Weinberg and their stupid equation!
What is it?
What is it used for?
What rules must apply?

Back 13

p+q=1=pp+2pq+qq
p and q are different alleles in a population
x link recessive disease in males is q and females is qq
Have to have no mutations, no selections, random doing of it, no migration

Front 14

Prader Willi syndrome?

Back 14

Paternal allele should be activated but is deleted.
Mental reatardation, hyperphagia, obesity, hypotonia, hypogonadism.
Prader and Paternal

Front 15

Angleman's syndrome

Back 15

maternal allele should be active but is deleted.
Mental retardation, seziures, ataxia, laughter

Front 16

Autosomal dominant

Back 16

Every generation affected
family history very important
male and female affected

Front 17

Autosomal recessive

Back 17

25% of the offspring have it.
Both parents are carriers
seen only in one generation

Front 18

x linked recessive

Back 18

no male to male transmission
mother was a carrier if the son has it

Front 19

x linked dominant

Back 19

all daughters of affected father have it
if mother has it, chance son and daughter will get it.

Front 20

Mitochondrial inheritance

Back 20

Transmitted through mother. All kids can have it
Issue is usually with ox-phos

Front 21

Achondroplasia

Back 21

Autosomal dominant
Tiny people with short limbs and normal bodies
defect in fibroblast growth factor receptor 3
associated with old parents (damm you Viagra!)

Front 22

Autosomal dominant polycystic kidney disease (ADPKD)

Back 22

Bilateral kidney enlargement due to massive cysts.
Flank pain, hematuria, HTN, renal failure
associated with Berry aneurysms

Front 23

Familial Adenomatous polyposis

Back 23

Autosomal Dominant
lots of polyps after puberty
results in colon cancer unless resected.
Mutation occurs on chromosome 5

Front 24

Familial hypercholesterolemia

Back 24

Autosomal Dominant
Elevated LDL due to lack of LDL receptor.
Worse if homozygoues
tendon xanthomas in achilles is common

Front 25

Hereditary hemorrhagic telangiectasia

Back 25

Autosomal Dominant
blood vessel disorder
epitaxis, skin discoloration, telangiectasia (dilated blood vessels near skin)

Front 26

Hereditary Spherocytosis

Back 26

Autosomal Dominant
spheroid esk RBCs
due to spectrin or ankyrin defect
results in hemolytic anemia

Front 27

Huntington disease

Back 27

Autosomal Dominance
dementia progressing into dementia.
Gene located on chromosome 4
Trinucleotide repeat disorder (CAG)

Front 28

Marfan's Syndrome

Back 28

Autosomal dominant
fibrillin gene mutation
Tall lanky peeps

Front 29

Mutiple endocrine neoplasias

Back 29

Autosomal Dominant
tumors of endocrine glands.
Multiple types of the disease.
2a and 2b are associated with ret gene

Front 30

Neurofibromatosis type 1

Back 30

Autosomal Dominant
cafe-au-lait spots, nerual tumors, scoliosis
Chromosome 17

Front 31

Neurofibromatosis type 2

Back 31

Autosomal Dominant
Bilateral acoustic schwannomas
cataracts in kids
gene on chromosome 22

Front 32

Tuberous sclerosis

Back 32

Autosomal Dominant
facial lesions, hypopigment spots,
seizures, retardation, renal issues.

Front 33

Von Hippel-Lindau Disease

Back 33

Autosomal Dominant
deletion of VHL(tumor suppressor) gene on chromosome 3

Front 34

Cystic Fibrosis

Back 34

Autosomal Recessive
Defect in CFTR gene
Defect in Cl- channel in the lungs, thick mucus that congests lungs.
Recurrent infections
Infertility in males (well that sucks)
Cl- ions in sweat is how you test.

Front 35

Duchenne's Muscular Dystrophy

Back 35

X-link recessive
frame shift mutation that results in the deletion of dystrophin gene
onset before age 5
pseudohypertrophy of calfs
Very serious, short life expectancy

Front 36

becker's Muscular dystrophy

Back 36

x-link recessive
mutated dystophin gene
adolescence or early adult onset
not as serious as other one

Front 37

Fragile X syndrome

Back 37

X-link recessive
Defect in methylation and expression of the FMR1 gene
mental retardation, enlarge testes, long face, large jaw,
large ears

Think Jim Carey in the mask

Front 38

Down syndrome

Back 38

Trisomy 21
flat face, prominent epicanthal folds, simian crease , ASD
ultrasound in pregnancy will show increase nuchal translucency
increase B-hCG

Front 39

Edwards syndrome

Back 39

Trisomy 18
Micrognathia (small jaw), low ears, clenched hands.
Death usually in 1st year.
decrease B-hCG

Front 40

Patau's syndrome

Back 40

Trisomy 13
cleft lip or palate, holoprosencephaly, polydactyly
early death.
normal B-hCG

Front 41

Cri-du-chat syndrome

Back 41

deletion of the short arm of chromosome 5.
high pitched crying, retardation, cardiac abnormalities.
thinking crying cat

Front 42

Williams syndrome

Back 42

deletion of the long arm of chromosome 7
reatardation, hypercalcemia, very friendly, and good verbal skills

Front 43

DiGeorge syndrome

Back 43

22q11 deletion
thymic, parathyroid and cardiac defects, hypocalcemia

Front 44

Cri-du-chat syndrome

Back 44

deletion of the short arm of chromosome 5.
high pitched crying, retardation, cardiac abnormalities.
thinking crying cat

Front 45

Velocardiofacial syndrome

Back 45

22q11 deletion
palate, facial, and cardiac defects, hypocalcemia

Front 46

Williams syndrome

Back 46

deletion of the long arm of chromosome 7
reatardation, hypercalcemia, very friendly, and good verbal skills

Front 47

DiGeorge syndrome

Back 47

22q11 deletion
thymic, parathyroid and cardiac defects, hypocalcemia

Front 48

Velocardiofacial syndrome

Back 48

22q11 deletion
palate, facial, and cardiac defects, hypocalcemia