trypsin digestion

Giemsa staining of bands

What chromosome and what mechanism causes the mutation in Cri-du-chat and Williams syndrome?

How would you test for this type of mutation?

Cri-du-chat is ch. 5

Williams is ch. 7

BOTH ARE MICRODELETIONS

TEST w/ FISH

What are the acrocentric chromosomes (5)?

What type of translocation can occur with them?

13, 14, 15, 21, 22

robertsonian translocation

mutation in the TP53 gene which codes for p53. 

loss of function

same amnion and chorion

seperate amnion and chorion

same chorion, seperate amnion

variable number of tandem repeats detect minisatellite repeats

short tandem repeat finds microsatellites (2-6bp)

At what week is amniocentisis done?

At what week is chorionic villus sampling done?

16 weeks for amniocentisis

10-12 wks for chorionic villus sampling

denature

anneal

elongation

What does southern blotting detect?

northern blotting?

Western blotting?

Southern-DNA

Northern-RNA

Western-protein

variable expression: have the genotype with varying phenotype

incomplete penetrance: some with the genotype will not express the phenotype at all

when one mutation has effects in several different organs

EX: Marfan (fibrilin gene in many locations) or PKU

What does inprinting do?

maternal allele on ch. 15 is methylated normally-->inactive

at the same time the paternal allele on ch.15 is deleted

-->no copy of allele on ch.15

ch. 15 paternal allele is methylated-->inactive

but the active maternal allele is deleted

-->no active ch. 15 allele

Huntington's

Myotonic dytrophy

Fragile X

Fredrich's Ataxia

What are the trinucleotide repeats in the following disorders?

Huntingtons

Myotonic Dystrophy

Fragile X

Friedrich's Ataxia

Huntingtons CAG

Myotonic CTG

Fragile X CGG

Freidrichs GAA

there is already an inheritied mutation on the locus causing heterozygote for the mutation

the loss of heterozygosity comes with a second hit resulting in full mutation

Marfan

MEN 2B

Albinism

a mutation in mitochondrial DNA is only passed from mother to offspring.  Not all the mitochondria is mutated.

Heteroplasmy is the varying severity of phenotype depending on how much of the mutated mitochondrial DNA is passed on in relation to normal mitochondrial DNA

mitochondrial encephalomyopathy

myoclonic epilepsy

lebex herditary optic neuropathy

uniparental disomy

patient has both maternal copies which are imprinted and thus inactive

Transversion is the substituation of a guanine for a thymine reside or vise versa

Transition is the substitutaion of a purine for another purine or a pyrimadine for another pyrimadine

What disease causes degeneration of retinal ganglion cells and axons-->central vision loss?

What type of inheritance does it follow?

Leber's hereditary optic neuropathy

mitochondrial inheritance

polycystic liver

mitral valve prolapse

berry aneurysm

NF1 17

NF2 22

Tay Sachs

Gaucher's type I

bruton agammaglobulinemia

Wiskott Aldrich

fabry

G6PD deficiency

ocular albinism

lesch-Nyhan

Duchene/Beckers MD

Hunter's

Hemophilia A/B

post translational abnormal protein folding-->cystic fibrosis

channel is degraded before reaching the membrane

elevated CPK

muscle biopsy

large testes

large jaw

large ears

1. Downs

2. Fragile X

Down 21

Edwards' 18

Patau's 13

AFP and estriol decreased

hCG and inhibin increased

Drinking age is 21--> may need AAA

Acute lymphoblastic leukemia

Atrial Septal Defect (and VSD)

Alzheimers at early age

nondisjuction (95%)

robertsonian translocation (14 and 21) 4%

mosacism (1%)

election age is 18--> president J.F.K.

small jaw

overlapping fingers

clenched fingers (knuckles)

puberty age is 13-->all have "P"

holoproencephaly

polydactyly

cleft palate

pericentric includes the centromere and can go through miosis

paracentric doesn't include centromere and cannot go through meiosis

CATCH 22

Cleft palate

abnormal facies

Thymic aplasia

carciac anomolies

hypocalcemia

DiGeorge invovles thymus and parathyroid problems

Velocardiofacial involves facial problems (palate)