-
Southern blotting
- Dna is cleaved by enzyme
- gel electrophoresis
- then put filter
- radioactive complement anneal to complementary probe on fiter
- complementary probes are visualized when filter is exposed to flm
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Northern Bltting
similary to souther but instead of DNA RNA is used
-
when is northern blotting useful
studying mrna that reflect gene expression
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Southwestern blotting
Identifying DNA-binding protein, using labeled double stranded DNA probes
-
Western blotting
protein in separate on gel electro, then transferred to a membrane where specific protein will bind to labeled antibodies it is exposed to
-
menumonic is remeber the 3 main blotting
SNow DRop
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Autosomal dominant
- genotype: Aa
- usually, half the children are affected if one parent is autosomal dominant
- due to defects in structural genes
-
what is a proband
particular person or subect beind studies or reported on
-
probability of being a carrier if Autosomal Recessive affected sibling
unaffected individual with affected sibling has 2/3 probability of being a carrier
-
with autosomal recessive if both parents are heterozygous then
- 1/4 of children will not be affect
- 1/2 will be carriers
- 1/4 will be homozygous( affected)
-
what is the possibility of a male being affected by a a X-linked recessive disease if inherited from mother?
50%
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is there male to male transmission of x-linked recessive disease?
no
-
when to comes to generation how does X-linked recessive act?
they usually skip generations
-
X-linked dominant transmission pattern
- can be transmitted from both parent
- mothers transmit to 50% of daughters and sone
- fathers transmit to all daughters and not to sons
-
examples of x-linked dominant diseases?
- fragile x
- alport syndrome
- hypophosphetic rickets
-
findings of down syndrome
- single palmar crease
- flat facies
- gap between 1st and 2nd toe
- incuved 5th finger
-
Mitochondrial inheritance pattern
- transmitted only through the mother
- all offspring can show signs od disease
-
how are mitochondrial diseases throughout generations
variable expression in pop and within family due to heteroplasmy
-
heteroplasmy and its clinical significance
- present in mitochondrial diseases
- this term means that there is more than on type of mtDna present within a cell or a indivudual.
- the more neatively mutated mtDna the more sever
-
Examples of autosomal dominant disease(4)
- Huntinton's disease
- Marfan's syndrome
- Achondroplasia
- myotonic muscular dystrophy
-
Examples of autosomal recessive disease(6)
- cystic fibrosis
- lycogen storage diseases
- kartagener syndrome
- sickle cell anemia
- thalassemias
- wilson disease
-
cystic fibrosis mode of inheritance
autosomal recessive
-
defected gene in cystic fibrosis
- CFTR gene on chromosome 7
- defect in Phe508
-
X linked disorder mneumonic
Obviously females will often give her boys her x-linked disorders
-
X linked disorder mneumonic meaning
- Wiskott-Aldrich synd
- Hunter's syndrome
- Hemophilia A & B
- Duchenne and Becker muscular dystrophy
- Bruton agammaglobulinemia
- G6PD ( Glucose 6 phosphate dehydrogenase defeciency
- Orinthine transcarbamylase deficency
- Fabry disease
- Ocular albinism
-
complication of cystic fibrosis
recurrent pulmonary infections, alergic pulmonary aspergillosis,chronic bronchitis and bronchiectasis, liver disease,
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what is the reason behind Duchenne muscular dystrophy
- it is x-linked recessive due to frameshift delation or nonsense mutation
- DDD
- duchenne- deleted dystrophin gene ( DMD)
- progressive myofiber damae
-
becker muscular dystrophy
- typically due to non framshet deletion in dystropin gene
- Beckers is better
-
edwards syndrome
- eight and edwards start with the same letter
- trisomy 18
-
what are the finding of edwards syndrome
- prince edward
- prominent occiput
- Rocket-bottom feet
- intellectual disability
- Non disjunction
- Clenched fist with overlapping fingers
- Low set ears
- small jaw
- conge. heart dis
-
when do infants with edwards syndrome usually die?
by age 1
-
incidence of edwards syndrome
1:8000
-
patau syndrome findings
- cleft liP Palate
- holoProscencephaly
- cutis aPlasia
- Polydactyly
- congenital heat ( Pump) dis
- Polycystic kidney diseas
-
what are the 5 A's of Downs syndrome and what do they mean?
- advance maternal age (1/24 chance with women over 45yrs old)
- Atresia ( duodenal)
- ALL/AMLL
- Alzheimer ( early onset)
- Atrioventricular septal defect
-
Robertsonia transloation affects which chromosomes ?
- 21, 22, 13, 14, 15
- to remember which trisomies think I,2,3,4, and 5
-
define robert translation
when the long arms of two acrocentric ( chromosome that have centromeres near their ends) fuse at the centromere and the short arms are lost
-
what are some disease that are cause by robert translations
Patau adn Down syndrome
-
Findings of Cri-du-chat syndrome
- cry of the cat
- microcephaly , moderate to severe mental disability, high pitch brying or meowing, epicanthal flds, cardiac abnormailities ( VSD)
-
what kind of apleuidy is cri-du chat
congenital deletion on short arm of chromosome 5
-
hwo do you denote criduchat
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