Jennifer Shared "GENETICS" - 25 Picmonics

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GENETICS

Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
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2 mins
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
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1 min
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
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3 mins
Cri Du Chat
Pathophysiology
Congenital Deletion of Short Arm of Chromosome 5p
Signs and Symptoms
High Pitched Cry/Mewing
Microcephaly
Hypotonia
Difficulty Sucking and Swallowing
Epicanthal Folds
Widely Spaced Eyes
Wide & Flat Nasal Bridge
High Arched Palate
Intellectual Disability (Mental Retardation)
Cardiac Abnormalities
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2 mins
Patau's Syndrome
Trisomy 13
Severe Intellectual Disability (Mental Retardation)
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft lip/cleft palate
Rocker bottom feet
Cystic kidneys
Ventricular Septal Defect (VSD)
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2 mins
Williams Syndrome
Pathophysiology
Microdeletion Of Long Arm Of Chromosome 7
Elastin Gene
Signs and Symptoms
Elfin Facies
Intellectual Disability (Mental Retardation)
Extreme Friendliness With Strangers
Well Developed Verbal Skills
Cardiovascular Problems
Hypercalcemia
Increased Sensitivity To Vitamin D
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2 mins
Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Simian Crease
Flat Facies
Duodenal Atresia
Hirschsprung's Disease
Septum Primum Type ASD
Endocardial Cushion Defects
Prominent Epicanthal Folds
Increased Risk of Acute Lymphoblastic Leukemia
Alzheimer's Disease
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2 mins
Edwards Syndrome
Pathophysiology
Trisomy 18
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Rocker Bottom Feet
Ventricular Septal Defect (VSD)
Clenched Hands
Overlapping Fingers
Low-Set Ears
Micrognathia
Prominent Occiput
Omphalocele
Meckel's Diverticulum
Horseshoe Kidney
Malrotation of Intestines
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2 mins
Myotonic Dystrophy
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CTG
Signs and Symptoms
Facial Muscle Weakness
Frontal Balding
Sustained Grip
Conduction Defects
Cataracts
Selective Atrophy of Type 1 Fibers
Testicular Atrophy
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2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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2 mins
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Beighton Criteria
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2 mins
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
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2 mins
Chromosome Components
Characteristics
DNA
Histones
Nucleosomes
Chromatin
Chromosome
Telomere
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1 min
Chromosome Forms
Characteristics
Chromatid
Sister Chromatids
Homologous Chromosomes
Tetrad
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2 mins
DNA Base Pairing
Characteristics
3' End
5' End
Antiparallel Base Pairing
Complementary Strands Pair
Thymine And Adenine Pair
2 Hydrogen Bonds
Adenine and Uracil Pair in RNA
Guanine And Cytosine Pair
3 Hydrogen Bonds
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3 mins
DNA Replication
Characteristics
DNA Gyrase Uncoils Supercoil
Helicase Separated DNA Strand
Single-Strand Binding (SSB) Protein Keeps Strands Separated
DNA Polymerase Synthesizes New Strand
3' To 5' Reading
Primase Creates RNA Primer
Telomerase Caps DNA Ends
DNA Ligase Combines Okazaki Fragments
Okazaki Fragments On Lagging Strand
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4 mins
RNA
Characteristics
mRNA
3' Poly A Tail
5' Cap
Template For Translation
rRNA
Catalyzes Amino Acid Bonds
Component of Ribosome Enzyme
tRNA
Anticodon Region
3' Tail Bind To Amino Acid
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2 mins
Transcription Overview
Initiation
RNA Polymerase binds Promoter
Elongation
DNA Opens by Helicase
RNA Polymerase reads 3' to 5'
Nucleotides added to 3' end
Termination
Stem Loop Formation
Rho protein factor
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3 mins
Eukaryotic Transcription Regulation
DNA Silencer Region
Transcription Factors bind Silencer Region
Decreased Transcription
Co-factors can deactivate factors
Co-factors can activate factors
DNA Enhancer Region
Transcription Factors bind Enhancer Region
Increased Transcription
Enhancer and Silencer regions can be far from Promoter
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2 mins
Codon Overview
Characteristics
mRNA Read In Three Nucleotide Chunks
AUG Is Start Codon
Matching tRNA Anticodon
Amino Acid Specific (To Codon)
AUG Codes For Methionine
UAA, UAG And UGA Are Termination Codons
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2 mins

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