Exam II Review Flashcards
Define mutation
permanent change in the DNA of an organism
Define genomic mutation
Karyotypic change resulting in aneuploidy
Define chromosomal mutation
change in size, shape and structure of chromosomes
Define gene mutation
seen at the gene level only
Define point mutation
within coding sequence
Define deletion mutation
Deletion of NT’s
Define insertion mutation
Addition of NT’s
Define missense mutation
Point mutation resulting in a different AA
Sickle Cell
Define nonsense mutation
Example
early stop codon
Beta thalassemia
Define tri-nucleotide repeat
Repeat of 3 amino acid sequence
Define autosomal dominant
3 general characteristics
Only need one allele to have phenotype Reduced penetrance Variable expressivity Males and females Spontaneous mutations can occur Onset is delayed Proteins and metabolic control points
Define autosomal recessive
2 general characteristics
Need two alleles to have disorder
Early onset
Enzymes
Usually complete penetrance
Define x-linked recessive
Need to have one mutant X allele in males and two in females.
Define x-linked dominant
One example?
Only need one X allele to have disorder
Vitamin D resistant rickets
Define codominant
One example?
two different gene alleles are fully expressed together
Marfan's syndrome Type of inheritance Incidence Chromosome involved Protein involved Three charcteristics of syndrome (MARFANS)
Autosomal dominant
Ch 15
Fibrillin
Mitral valve prolapse Aortic aneurysm/Aortic valve incompetence Retinal detachment Fibrillin/Ch15 Arachnodactyly Subluxulated lens
Ehlers danlos Type of inheritance: Protein involved Five characteristics of syndrome "Fellers Damn Loose"
All 3
Collagen
Stretchable skin
Hypermobile joints
Really easily injured skin
Increased lines on palma
Familial hypercholesterolemia Type of inheritance Incidence Proteins/components involved Two characteristics of syndrome
Autosomal Dominant
1 in 500 (MOST COMMON)
Defective LDL receptor
High blood cholesterol levels
Tendinous xanthomas
Tay Sachs Type of inheritance Incidence or population at risk Protein/components involved Two characteristics of syndrome
Autosomal Recessive
Ashkenazi Jews
Hexosaminidase A –> Gangliosides
Cherry Red Spot on macula
Blindness
NO hepatosplenomegaly
Gaucher Type of inheritance Incidence or population at risk Protein/components involved What types exist?
Autosomal Recessive
Eastern European Jews
Glucocerebrosidase
Type I(Phagocytes), Type II (Infantile), Type III (Intermediate)
Niemann-Pick
Type of inheritance
Protein/components involved
What types exist?
Autosomal recessive
Eastern European Jews (Type A&B)
NPC-1 gene –> Sphingomyelin
A (infantile), B, C (most common)
Mucopolysaccharidoses?
Most common type of inheritance
What form is X-linked recessive
Two general characteristics
All AR Except Hunter Syndrome Coarse facial features Clouding of corneas joint stiffness mental retardation
Glycogenoses (Viagara Pills Cause A Major Hard On)
What is hepatic type?
Muscle type?
Lysosomal type?
Hepatic: Type I – Von Gierke’s
Muscle: Type V – McArdle’s
Lysosomal: Type II – Pompe’s
NF-1 Incidence Chromosome involved Protein involved and normal action Three characteristics
1/3000
NF-1 gene on Chromosome 17q11
Neurofibromin - Tumor supressor
Neurofibromas
Cafe au lait macules
Lisch nodules
NF-2 Incidence Chromosome involved Protein involved and normal action Three characteristics
10% of NF's Ch 22 Merlin: Tumor suppressant Neurofibromas, Bilateral acoustic neuromas NO Lisch Nodules
Multifactorial disorders
Three examples?
Hypercholesterolemia
Hypertension
Height
Eye color
Trisomy 21 Incidence Age relationship Types? Four characteristics
Mom’s increasing age increases risk
Nondisjunction 47 X? 21,
Robertsonian translocation (46, X?, der 14,21)
Mosaics (46X?, 47X? +21)
Endocardial cushion
Atresia of bowel
Risk for leukemias
Mental retardation, Alzheimer’s
Trisomy 18
Incidence
Four characteristics
1 in 8000
Rocker-bottom feet
Renal problems
CV problems
Facial abnormalities
Trisomy 13
Incidence
Four characteristics
1 in 15000
Polydactylyl
Rocker bottom feet
Facial problems
Renal/CV problems
Klinefelter syndrome
Types?
Four characteristics
47XXY, 48XXXY, 49 XXXXY
Additional X’s increase mental retardation
Gynecomastia
Hair distribution
Turner syndrome
Incidence
Four characteristics
45, XO
Webbing of neck Cystic fibroma (lymphangioma) Short Broad chest (widely spaced nipples) Pigmentation Primary amenorrhea (1/3 of all)
Triple repeat disorders Example of X-linked R and AD forms Define anticipation Define sherman's paradox Give three characteristics of Fragile X syndrome
Fragile X: X-linked
Huntington: AD (earlier onset)
Friedrich’s ataxia: AD
Myotonic dystrophy: AD
Anticipation: age of onset increases through generation
Sherman’s paradox: Your place in pedigree determines the risk of getting it
End of long arm of X is messed up
Hypergonadism
Mitochondrial disorders
– Give one example
Leber Hereditary Optic Neuropathy
Imprinting
– Explain this process
– Give two examples
Selective inactivation of either the
maternal or paternal allele
Paternal imprinting: Prader Willi
Maternal imprinting: AngelMan’s
Cystic fibrosis – Incidence and race – Chromosome involved – Protein involved – Most common and lethal mutation – List three characteristics (CF PANCREAS)
Whites: 1/2000, Blacks 1/15000 Rare in asians Long arm Chr 7 CFTR: CF transmembrane conductance regulator F-508 Chronic cough Failure to Thrive Pancreatic insufficiency Alkalosis Neonatal meconium ileus Clubbing of fingers Rectal prolapse Electrolyte elevation Absence of vas deferens Staph or pseudomonas
What is malformation?
Intrinsic or extrinsic problem?
What is etiology?
Example?
a
What is a disruption?
Extrinsic or intrinsic?
What is etiology?
Example?
a
Deformations Extrinsic or intrinsic? What % of newborns? What causes it? Most common cause? Increased risk factors? (7)
a
What is a sequence?
What is the initiating event?
Example?
a
What is Potter sequence? 4
a
What are malformation sequences?
What are they generally caused by?
Two examples
a
What are transcervical/ascending infections?
What can they affect in terms of baby? (2)
Occur with what risk factors? (2)
What can it lead to? (3)
4 causes?
a
Transparental infections are what?
Usual cause?
What are the five exmaples (TORCH)
Symptoms? (5)
a
What is prematurity?
Risk factors? (4)
Complications? (3)
a
Intrauterine growth retardation results in what?
a
Fetal causes of interuterine growth retardation?
a
Placental causes of intrauterine growth retardation?
a
Maternal factors causing intrauterine growth retardation
a
Risk factors for respiratory distress syndrome of newborn? (4)
a
Basic defec tin respiratory distress syndrome?
What cell normally makes this?
What will increase production? (2)
a
Survivors of respiratory distress syndrome may have what? (2)
a
What is necrotizing enterocolitis? Etiology? (2) What aggravates? (2) What parts of GI are affected? (3) Effect on GI organs? (4) Exam reveals what? (4)
a
Infants with necrotizing enterocolitis develop what symptoms? (4
Treatment?
Healing can lead to what?
a
SIDS is defined how?
How many cases a year?
90% are how old?
What can reduce risk?
a
What is hydrops fetalis?
What causes it historically?
a
What is most frequent cause of hydrops fetalis now?
Causes? (5)
a
Hydrops fetalis care includes doing what? (4)
a
3 indoor air pollution?
wood smoke: Nitrogen and carbon oxides
radon: Decay of urancium –> Broncho carcinomas
bioaerosols: bacteria, viruses, fungi, dander
Organic compounds include? (4)
a
Chloroform and CCL4 lead to what?
CNS symptoms –> Coma
Polycyclic hydrocarbons do what?
Carcinogenic to lung and bladder
Vinyl chloride causes what cancer
Hepatic angiosarcoma
1,3-butadiene/rubber causes what?
leukemia
3 bad metals
Cancer for each
arsenic: lung and skin carcinoma + hepatic angiosarcoma
chromium: Lung carcinoma
nickel: Lung carcinoma
What are pneumoconioses
3 size ranges?
Non-neoplastic lung diseases induced by
inhaled organic and inorganic particulate
matter and fumes.
<1 um = reach alveoli and act like gases, without deposition or damage
Coal workers lung/black lung has what in simple form?
Asymptomatic anthracosis
Coal workers lung/black lung has what in complicated form?
progressive massive fibrosis
What is caplan syndrome? (2)
Symptoms? 2
Rheumatoid arthritis and pneumoconiosis
- Coalescing nodules with central necrosis
- palisading macrophages, fibroblasts and plasma cells
What is silicosis secondary to?
Which form is better, which is worse?
How many cases in US a year
Acute form results in what? (3)
inhaled silica
Crystalline forms more reactive than amorphous
forms
1500/year
respiratory
symptoms, interstitial inflammation and proteinaceous
fluid collections in alveolar sacs
Chronic form of silicosis results in what forming?
Nodular form with fibrosis nodules in upper zones of
the lungs and in subpleural locations
Complicated form results in what?
Progressive enlargement of nodules and destructions
of lung parenchyma (PMF)
Silicosis has what two diseases increase due to it?
TB
Cancer
Two major types of asbestos
Which is more common
Which causes mesotheliomas?
a
Serpentine asbestos has asbestos in what form?
Why is it more common?
a
Amphibole has what type of asbestos?
Why do they create damage?
a
5 forms of asbestos
a
What are asbestos bodies?
a
What is berylliosis acute form?
Chronic form?
Who is at risk?
a
Tobacco smoke has how many deaths?
What proportion is lung cancer
a
