genetics - modes of inheritance, etc Flashcards
x linked recessive diseases - 10
The OTc bitsy Hunter’s, name was Lesch Fabry,
he shot the Meinke, WASP and G6P,
up came Bruton, and what a Douchy guy,
A and B are xlinked… don’t forget DI
Ornithine Transcarbamylase Deficiency
Hunter's Lesch Nyhan Fabry Meinke Wiskott Aldrich WASP
Glucose 6 Phosphate Deydrogenase Deficiency G6P
Bruton’s Agammaglubulinemia
Duchenne’s muscular dystropy
haemophilia A and B
Diabetese Insipidus
Autosomal dominant disease?
row row row your boat
von von ALS
Rb MEN
Tubes &; Spheres & Huntingdon,
Marfan, Ehler’s Dan
Con, Con, Cholesterol, Osler-Weber-Rendu
Li-Fraumeni and Dystrophy, please include these two.
NF1 and 2, don’t FAP too much, autosomal dominant, yes this song is clutch
PLUS osteogenesis imperfecta,
achondroplasia
von Hippel, von Willebrand disease (most common) ALS (amyotropihic lateral sclerosis) Retinoblastoma MEN - Multiple Endocrine Neoplasia Tuberous Sclerosis Hereditary Sphereocytosis Huntingdon's Marfan's Ehler's danlos Con Con - Achondroplasia cholesterol - familial hypercholesterolemia Dystrophy - nyotonic muscular dystropy Neurofibromatosis Familiar Adenomatous Polyposis
Con Con - Achondroplasia
cholestero - familial hypercholesterolemia
Dystrophy - nyotonic muscular dystropy
autosomal recessive
cystic fibrosis - deficiency in the chloride channel CFTR 7
inborn errors of metabolism
PKU, von Gierke’s, Pompe’s, glycogen storage diseases, sphingolipidoses (except Fabry’s), and mucopolysaccharidoses (except Hunter’s)
sickle cell anemia thalassemias albinism ARPKD hemochromatosis
Lysosomal Storage Diseases
also - I (inclusion)-cell disease
Chédiak–Higashi syndrome
https://step1.medbullets.com/biochemistry/102080/lysosome
fabry gaucher tay sach's Niemann Pick Krabbe's Disease Hunter's Disease Hurtler's Disease
Metachromatic Leukodystrophy (no slide on this)
Fabry Disease?
“my Fabrite activity is Ceramics. We made a GalaXy”
enzyme: Alpha - Galactosidase A
Build up - Ceramide Trihexoside
Gaucher’s Disease
(in crying voice) “oh my Gauche, he’s such a Bro”
Enzyme: Glucocerebrosidase
Buildup : Glucocerebroside
in crying voice? because histology - Tissue Paper Cytoplasm
Tay Sach’s Disease
“A Gang of 6 small Jews”
Cherry red spot on Macula
Small ( no hepatosplenomegally associated) vs - Niemann Pick (also cherry red macula)
Enzyme: Hexosaminidase A
Buildup: GM2 glangioside
The macula provides us with the ability to read and see in great detail whereas the rest of the retina provides peripheral vision. Of all the different parts of the eye, the macula is where the most important images are created before being sent along the optic nerve to the brain, where vision is completed.
Niemann Pick
Pick your BIG nose with your Sphinger
hepatosplenomegally associated
Also in Ashkenazi jews - similar presentation to tay sach’s
cherry red macula
Enzyme: Spingomyelinase
Buildup: Spingomyelin
Krabbe disease
The KRABBE is out of this WORLD
histology - GLOBOID cells - always trying to get a big GLOB of crab meat when crack into the shell
Enzyme: Beta Galctocerebrosidase
Build up - Galactocerebroside
Hunter’s Disease vs Hurlers
X marks the spot
same build up to both
HurLer’s enzyme is L - iduronate
Enzyme: Iduronate Sulfatase
build up: Dermatan Sulfact
No corneal clouding in Hunters (put the gun up to your eye to shoot) need clear eyes - and gun is touching SKIN - Dermatan
Acid vs base - dirty medicine
https://www.youtube.com/watch?v=J9jisOXB_Oo
normal PH - 7.40
change in HCO3 - “metabolic”
change in CO2 - “respiratory”
PH= HCO3/CO2 = 24/40 = Metabolic / Respiratory
PH up - = Alkalosis
PH dn = Acidosis
memorizing amino acids -
https://www.youtube.com/watch?v=PmbcA1Sav7s
Inheritance Algorithm
https://step1.medbullets.com/biochemistry/102036/modes-of-inheritance
Great chart about inheritance
Does offspring with disease have a parent with disease? (Y/N) if YES dominant (does not skip generations) is there male-to-male transmission of disease? (Y/N) if YES autosomal dominant if NO do daughters of affected male have disease? (Y/N) if YES X-linked dominant if NO mitochondrial if NO recessive (can skip generations) predominantly males with disease? (Y/N) if YES X-linked recessive if NO autosomal recessive
mitochondrial mode of inheritance
passed down only through affected females to all their offspring regardless of the status of their mate most likely has a mitochondrial mode of inheritance. This pattern of inheritance is seen because mitochondria have a separate genome that is passed down from a mother to all her offspring.
Cystic fibrosis - autosomal recessive inheritance
Most commonly caused by a phenylalanine deletion at position 508 of the CFTR gene on chromosome 7.
elfin features?
Will Farrell - Williams Disease
Multifactorial inheritance diseases
7 common multifactorial genetic inheritance disorders heart disease, high blood pressure, Alzheimer's disease, arthritis, diabetes, cancer, and. obesity.
CLEFT LIP, Meningiocele, Coronary heart disease, Schizophrenia
Multifactorial inheritance means that “many factors” (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition.
if parents asked for chance of recurrence - would want to get info about how often this is occuring within particular family
Euploidy - normally Diploid 46, - Haploid 23occur normally - Triploid 69- can birth - die day one - (molar?) Tetriploid 92 (4x 23) never will birth
any multiple of correct amount
Molar pregnancy is an abnormal form of pregnancy in which a non-viable fertilized egg implants in the uterus and will fail to come to term. A molar pregnancy is a gestational trophoblastic disease which grows into a mass in the uterus that has swollen chorionic villi. These villi grow in clusters that resemble grapes.
Aneuploidy - any other combo than 45 or 47 will not surviv3
only 3 trisomies that can come to term - 13, 18, 21
when not a multiple of 23
Autosomal recessive disease
Oculocutaneous albinism, autosomal recessive polycystic kidney disease (ARPKD), cystic fibrosis, Friedreich ataxia, glycogen storage diseases, hemochromatosis, Kartagener syndrome, mucopolysaccharidoses (except Hunter syndrome), phenylketonuria, sickle cell anemia, sphingolipidoses (except Fabry disease), thalassemias, Wilson disease.
nucleoside vs. necleoTide (phosphaTe)
if no phosphaTe, it is a nucleoside
nucleoSide = base + Sugar
A nucleoside consists simply of a nucleobase (also termed a nitrogenous base) and a five-carbon sugar (ribose or 2’-deoxyribose) whereas a nucleotide is composed of a nucleobase, a five-carbon sugar, and one or more phosphate groups.
Why is RNA so labile?
While DNA contains deoxyribose, RNA contains ribose, characterised by the presence of the 2’-hydroxyl group on the pentose ring (Figure 5). This hydroxyl group make RNA less stable than DNA because it is more susceptible to hydrolysis. … Some viruses use RNA instead of DNA as their genetic material.
ribose vs. deoxyribose?
OH group at carbon 2 in ribose - H at 2 in DNA
where does phosphate bind?
where does Sugar bind?
PhosphaTe binds at 5, next nucleotide binds at 3
SUGAR
Purine: N9
Pyrimidine: N1
Sugars numbered by using Prime 1’, 2’ to avoid confusion with Carbons
Purines? PUre As Gold
two rings
GAG - 3 AA needed:
Glycine
Aspartate
Glutamine
two rings, larger, numbered counterclockwise
other purine metabolites - xanthind, hypsanthine, uric acid - (may be present in tRNA)
Deamination of Adenine - hypoxanthine
Deamination of Guanine - Xanthine
Adenine has Amino group - an NH2 group
Pyrimidines - CUT the PY
smaller - 6 atoms, numbered clockwise
thYmine has a methYl (see as CH3)
Deamination of cytosine = uracil
Methylation of uracil = thymine
A variety of different things can be made - various nucleoSides and Tides
Adenosine, Guanosine, etc (all nucleoSides)
AMP, ATP, GMP, etc - all have phosphaTe - nucleoTide
nucleoside triphosphates are used in synthesizing Nucleic Acids
when nucleotides polymerize to form nucleic acids - what happens?
ester bond formed, water produced - 3’ carb binds with phosphate on 5’ of other -
hence a phosphodiester bond -
free ends?
5’ phophate and 3’ free hydroxyl
nuclear envelope - found in prokaryotes or eudryotes?
only eukaryotes
