Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
156 Cards in this Set
- Front
- Back
GENETIC TERM
- Blood groups (A, B, AB) |
- Codominance
|
|
GENETIC TERM
- 2 patients with NF1 have varying SEVERITY of their disease |
- Variable Expression
|
|
GENETIC TERM
- Not all individuals with a mutant genotype show the mutant phenotype |
- Incomplete Penetrance
|
|
GENETIC TERM
- PKU causes many seemingly unrelated symptoms ranging from MR to albinism. |
- Pleiotropy
|
|
GENETIC TERM
- 1 gene has >1 effect on an individual's phenotype |
- Pleiotropy
|
|
Occurs when a patient inherits/develops a mutation on a TUMOR SUPPRESSOR Gene, then the complementary allele must be deleted/mutated before CA develops
|
- Loss of Heterozygosity
|
|
GENETIC TERM
- give example of Loss of Heterozygosity |
- Retinoblastoma
|
|
GENETIC TERM
- Loss of Heterozygosity occurs with what type of genes? - Loss of Heterozygosity does NOT occur with what genes? |
- Tumor suppressor genes
- Oncogenes |
|
Heterozygote produces NON-FUNCTIONAL, ALTERED PROTEIN that will ALSO prevent the normal gene product from functioning
|
Dominant Negative Mutation
|
|
GENETIC TERM
- Dominant Negative Mutation exerts what type of effect? |
- Dominant effect
|
|
Heterozygous mutation gene product makes a nonfunctional, mutated protein factor that can still bind DNA and prevent wild-type factor from binding
|
Dominant Negative effect
|
|
GENETIC TERM
- Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance alone. |
- Linkage disequilibrium
|
|
GENETIC TERM
- Linkage disequilibrium is measured in what groups? |
- Population groups
(not families) (often varies in different populations) |
|
GENETIC TERM
- when a disease is NOT carried by parent's somatic cells |
- Germ-line Mosaicism
|
|
GENETIC TERM
- Lyonization is what? - Lyonization is an example of what genetic manifestation? |
- random X-inactivation in females
- mosaicism |
|
GENETIC TERM
- Mutations at different loci produce the same phenotype |
- Locus heterogeneity
|
|
GENETIC TERM
- 3 diseases causing Marfanoid habitus - this is an example of? |
- Marfan
- MEN 2B - Homocystinuria - Locus Heterogeneity |
|
GENETIC TERM
- Albinism is also an example of this genetic manifestation |
- Locus heterogeneity
|
|
GENETIC TERM
- Presence of BOTH normal & mutated MITOCHONDRIAL DNA, resulting in VARIABLE EXPRESSION |
- Heteroplasmy
|
|
GENETIC TERM
- Offspring recieves 2 copies of chromosomes from 1 parent and none from the other parent |
Uniparental disomy
|
|
Hardy-Weinberg Genetics
- Disease Prevalence equation |
p^2 + 2pg + q^2 = 1
|
|
Hardy-Weinberg Genetics
- Allele Prevalence equation |
p + q = 1
|
|
Hardy-Weinberg Genetics
- Heterozygote Prevalence equation |
2pq
|
|
Hardy-Weinberg Genetics
- Prevalence of XLD in males - Prevalence of XLD in females |
q
q^2 |
|
Hardy-Weinberg Genetics
- assumes what 4 things for it to be true |
- no Mutation
- no Selection - no Migration - Random Mating |
|
IMPRINTING
- 1 allele is active & other is inactivated/imprinted how? - disease occurs if what occurs? |
- methylation
- active allele is deleted (microdeletion?) |
|
@ single locus, 1 allele is inactivated/imprinted, while the normally active Paternal allele is Deleted
|
Prader-Willi syndrome
|
|
@ single locus, 1 allele is inactivated/imprinted, while the normally active Maternal allele is Deleted
|
Angelman's syndrome
|
|
Both Prader-Willi & Angelman's syndrome are due to inactivation or deletion of genes on what chromosome?
|
chromosome 15
|
|
Besides imprinting, Prader-Willi & Angelman's syndrome can also occur via what genetic manifestation?
|
Uniparental disomy
|
|
|
Autosomal Dominant
|
|
|
Autosomal Recessive
|
|
|
X-Linked Recessive
|
|
|
X-Linked Dominant
|
|
|
Mitochondrial Inheritance
|
|
INHERITANCE
- Clinically presents in both sexes AFTER PUBERTY and often due to defects in STRUCTURAL Genes |
Autosomal Dominant
|
|
INHERITANCE
- Clinically presents in CHILDHOOD and often due to ENZYME DEFICIENCY |
Autosomal Recessive
|
|
INHERITANCE
- usually seen in only 1 generation |
Autosomal Recessive
|
|
INHERITANCE
- Sons of Heterozygous Mothers have 50% chance of being affected. |
X-Linked Recessive
|
|
INHERITANCE
- No male-to-male transmission (but mainly seen in males w/ greater severity - from affected mother) |
X-Linked Recessive
|
|
INHERITANCE
- ALL FEMALES of affected FATHER are diseased - what about the children of affected mother? |
X-Linked Dominant
- both gender offspring may be affected |
|
INHERITANCE
- ALL OFFSPRING of affected mother are affected |
Mitochondrial Inheritance
|
|
INHERITANCE
- In mitochondrial expression, variable expression is seen due to? |
- Heteroplasmy
|
|
INHERITANCE
- X-Linked inheritance primarily affecting males - X-Linked inheritance affecting both genders from either both parents |
- XLR
- XLD |
|
INHERITANCE
- Hypophosphatemic Rickets inheritance pattern? |
X-Linked Dominant
|
|
HYPOPHOSPHATEMIC RICKETS
- aka? - inheritance pattern? |
- Vitamin D-Resistant Rickets
- XLD |
|
HYPOPHOSPHATEMIC RICKETS
- results in what pathophysiology? - where does pathophysiology occur? |
- Increased Phosphate Wasting
(hence hypo-phospha-) - @ Proximal Tubule |
|
Leber's Hereditary Optic Neuropathy (LHON)
- Acute vision effects? - due to what pathophysiology? |
Acute Central Vision Loss
Degeneration of Retinal - Ganglion cells - Axons |
|
ACHONDROPLASIA
- Inheritance pattern? - Etiology? |
- AD
- Cell signaling defect of FGFR 3 |
|
ADPKD vs ARPKD
- which one involves BILATERAL kidney enlargement & cysts? |
- ADPKD
|
|
ADPKD vs ARPKD
- which one involves infantile form? |
- ARPKD
|
|
ADPKD vs ARPKD
- etiology (90%) involves what gene? - gene is located where? |
- APKD1
- chromosome 16 (polycystic kidney = 16 letters) |
|
Which Autosomal Dominant disease is associated with advanced Paternal Age?
|
- Achondroplasia
|
|
Which Autosomal Dominant disease is associated with Berry Aneurysms (as well as MVP)?
|
- ADPKD
|
|
FAMILIAL ADENOMATOUS POLYPOSIS
- FAP manifests polyps where & when? |
- Colon covered with polyps after Puberty
|
|
FAMILIAL ADENOMATOUS POLYPOSIS
- FAP etiology involves what gene? - FAP involved gene is located on what chromosome? |
- APC gene
- Chromosome 5 (polyp = 5 letters) |
|
FAMILIAL ADENOMATOUS POLYPOSIS
- FAP prognosis (unless....?) |
- advances to CA unless resected
|
|
FAMILIAL HYPERCHOLESTEROLEMIA
- Hyperlipidemia Type ? |
- type IIA
|
|
FAMILIAL HYPERCHOLESTEROLEMIA
- what plasma levels are seen? - why (etiology?) |
- LDL elevated
- defective or absent LDL receptors |
|
FAMILIAL HYPERCHOLESTEROLEMIA
- Cholesterol levels |
Heterozygotes (1:500) = 300 mg/dL
Homozygotes (rare) = 700+ mg/dL |
|
FAMILIAL HYPERCHOLESTEROLEMIA
- what conditions occur early in life? |
- Atherosclerosis (early in life)
- MI (before the age of 20) |
|
FAMILIAL HYPERCHOLESTEROLEMIA
- Inheritance pattern |
- AD
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA
- aka? |
- Osler-Weber-Rendu Syndrome
|
|
HEREDITARY HEMORRHAGIC TELANGIECTASIA
- Inherited disorder of what structures? - Associated Symptoms? |
- Blood Vessels
(TEAS) - Telangiectasia - Epistaxis (recurrent) - AVM - Skin discoloration |
|
FAMILIAL ADENOMATOUS POLYPOSIS
- Inheritance pattern |
- AD
|
|
HEREDITARY SPHEROCYTOSIS
- Spheroid RBC's due to what defect? - causes what type of anemia? |
- Spectrin or Ankyrin defect
- Hemolytic anemia (microcytic hyperchromatic anemia) |
|
HEREDITARY SPHEROCYTOSIS
- inheritance pattern? |
- AD
|
|
HEREDITARY SPHEROCYTOSIS
- lab results (for Hb, Reticulocytes, MCV, MCHC) |
- Decreased Hb (hemolytic anemia)
- Increased Reticulocytes - Decreased MCV (microcytic) - Increased MCHC (hyperchromatic) Note: MCHC = MCH / MCV |
|
HEREDITARY SPHEROCYTOSIS
- Treatment? |
- Splenectomy is curative
|
|
HEREDITARY SPHEROCYTOSIS
- Physical exam would show what? |
- Splenomegaly
|
|
HUNTINGTON'S DISEASE
- Inheritance pattern |
- AD
|
|
HUNTINGTON'S DISEASE
- Atrophy of what? |
- Caudate nucleus
|
|
HUNTINGTON'S DISEASE
- Neurotransmitter changes? |
(CAG = Crumbling ACh & GABA)
Decreased ACh Decreased GABA |
|
HUNTINGTON'S DISEASE
- what is the Trinucleotide repeat? - chromosome location? |
(CAG)n
Chromosome 4 (hunt 4 CAGed animals) |
|
MARFAN'S SYNDROME
- mutation of what gene? |
- Fibrillin gene mutation
|
|
MARFAN'S SYNDROME
- type of Necrosis seen & where? - necrosis leads to? |
- Cystic Medial Necrosis (of Aorta)
- Aortic imcompetence - Dissecting Aortic Aneurysm |
|
MEN Syndromes
- Inheritance pattern - characterized by familial Tumors of? |
- AD
- Endocrine glands (including adrenal medulla, thyroid, parathyroid, pituitary, & pancreas) |
|
Which proto-oncogene is associated with some MEN Syndromes?
List the MEN syndromes associated with the above proto-oncogenes |
- ret gene
- MEN 2A - MEN 2B |
|
NEUROFIBROMATOSIS TYPE I
- PE findings on eye? (describe it) - Tumors associated? |
- Lisch nodules
(Pigmented Iris Hamartomas) - optic pathway Gliomas (also other neural tumors seen) |
|
NEUROFIBROMATOSIS
- give an example of skeletal disorders? |
- Scoliosis
|
|
NEUROFIBROMATOSIS
- Inheritance pattern |
- AD
|
|
NEUROFIBROMATOSIS
- NF1 gene is located where? - NF2 gene is located where? |
- 17 (long arm)
- 22 |
|
NEUROFIBROMATOSIS TYPE II
- PE findings on eye? (describe it) - Tumors associated? |
- Juvenile CATARACTS
- Bilateral Acoustic Schwannomas |
|
TUBEROUS SCLEROSIS
- Skin manifestations? - Eye manifestations? |
- Hypopigmented "Ash Leaf" spots
- Hamartomas (cortical/retinal) |
|
TUBEROUS SCLEROSIS
- Organ manifestation? x3 |
Renal
- Angiomyolipomas - Cysts Cardiac Rhabdomyomas |
|
TUBEROUS SCLEROSIS
- CNS symptoms? x2 - increased incidence of what CNS tumor? |
- MR
- Seizures - Astrocytoma |
|
TUBEROUS SCLEROSIS
- Inheritance pattern? |
- AD
|
|
Genetic manifesting associated with Tuberous Sclerosis:
A.) Pleiotropy B.) Incomplete Penetrance C.) Variable Expression D.) Locus Heterogeneity |
B.) Incomplete Penetrance
& C.) Variable Expression |
|
VON-HIPPEL LINDAU
- inheritance pattern? |
- AD
|
|
VON-HIPPEL LINDAU
- what gene is involved? - what kind of gene is it? - which chromosome is the gene on? |
- VHL
- Tumor Suppressor - Chromosome 3 (3p) (VHL = 3 letters) |
|
VON-HIPPEL LINDAU
- Primary type of CNS Tumor? - where is the tumor located? |
- HemangioBLASTOMA
- Retina - Cerebellum - Medulla |
|
VON-HIPPEL LINDAU
- What non-CNS tumor is associated with over half of VHL patients? - What is unique about this tumor? |
- Renal Cell Carcinoma
- Bilateral |
|
VON-HIPPEL LINDAU
- mutation of VHL causes constitutive expression of what? - mutation of VHL causes activation of what growth factor? |
- HIF (transcription factor)
- Angiogenic growth factors |
|
ALBINISM
- Inheritance pattern |
- AR
|
|
CYSTIC FIBROSIS
- inheritance pattern |
- AR
|
|
CYSTIC FIBROSIS
- mutated gene? - what type of mutation occurs there? - located on what chromosome? |
- CFTR
- Deletion (of Phe 508) - Chromosome 7 (tyler was 7 years old) |
|
CYSTIC FIBROSIS
- Physical Exam findings on Newborns - Physical Exam findings in Infancy |
- Meconium Ileus
- Failure to Thrive |
|
CYSTIC FIBROSIS
- mutation causes abnormal protein folding, resulting in ________ before reaching _________ |
- Degradation of Cl- channels
- Cell Surface |
|
CYSTIC FIBROSIS
- Deficiencies? |
- Fat Soluble Vitamin Deficiency
(K, A, D, E) |
|
CYSTIC FIBROSIS
- what condition only occurs in males? - why? |
- Infertility
- Absence of vas deferens (bilateral) |
|
CYSTIC FIBROSIS
- common microorganisms associated with CF recurrent pulmonary infections x2 |
- S. Aureus (MRSA?)
- Pseudomonas spp |
|
CYSTIC FIBROSIS
- Diagnostic Test & Results |
- Sweat test
- Increased Cl- ions (in sweat) |
|
CYSTIC FIBROSIS
- Treatment? - Tx for what purpose? - Tx MOA on molecular level? |
N-Acetylcysteine
Loosen up mucous plugs Cleaves Disulfide Bonds (within mucous glycoproteins) |
|
GLYCOGEN STORAGE DISEASES
- Inheritance pattern (for all of them) |
- AR
|
|
HEREDITARY HEMOCHROMATOSIS
- Inheritance pattern |
- AR
|
|
MUCOPOLYSACCHARIDOSES
- Inheritance pattern (for all of them) |
- AR (except for Hunter's - XR)
|
|
PHENYLKETONURIA
- Inheritance pattern |
- AR
|
|
THALASSEMIAS
- Inheritance pattern (for all of them) |
- AR
|
|
SICKLE CELL ANEMIA
- Inheritance pattern |
- AR
|
|
SPHINGOLIPIDOSES
- Inheritance pattern (for all of them) |
- AR (except for Fabry's - XR)
|
|
Major Clues for XLR
- what family member usually has it? - which gender gets it? - runs on which side of the family? |
"Maternal Uncle" or Maternal Grandpa"
Only MALES get it Runs on Mom's side of the family |
|
X-LINKED RECESSIVE DISEASES
- Carriers are usually? - Why are carriers rarely ever affected? |
- Females
- Due to Lyonization (random inactivation of X-chromosome on each cell) |
|
X-LINKED RECESSIVE DISEASES
- List them x11 |
(Be Wise - ABCDEFGH)
- Bruton's Agammaglobulinemia - Wiskott-Aldrich - Alport's syndrome (IV) - Bleeding Hemophilia A & B - CGD (NADPH Oxidase Def) - Duchenne's & Becker's MD - Eye Albinism - Fabry's (alpha-Galactosidase) - G6PD Deficiency - Hunter's (Iduronidate Sulfatase) |
|
MUSCULAR DYSTROPHY
- Inheritance pattern? |
- XLR
(for both Duchenne & Beckers) |
|
DUCHENNE'S MUSCULAR DYSTROPHY
- DMD mutated gene? - What type of mutation? - Mutation causes what effect on gene. |
- Dystrophin gene
- Frameshift Mutation - Deleted Dystrophin gene in entirety |
|
BECKER'S MUSCULAR DYSTROPHY
- BMD mutated gene? - What type of mutation? - Mutation causes what effect on gene. |
- Dystrophin gene
- Mutated gene - Mutated gene |
|
MUSCULAR DYSTROPHY
- Dystrophin function - Dystrophin function primarily on what tissues? |
- anchors muscle fibers
- Skeletal muscle - Cardiac muscle |
|
MUSCULAR DYSTROPHY
- Diagnostic Tests & Results |
- Increased CPK
- Muscle Biopsy |
|
FRAGILE-X SYNDROME
- what gene is associated? |
- FMR-1 gene
|
|
FRAGILE-X SYNDROME
- what is enlarged? x3 |
- Jaw (macrognathia)
- Ears (also everted) - Testes (macro-orchidism) (also long face, MR, MVP) |
|
TRINUCLEOTIDE REPEATS
- Fragile X syndrome |
(Can't Grab Gonads)
- CGG |
|
TRINUCLEOTIDE REPEATS
- Huntington's Dz |
(Hunt 4 CAGed animals)
- CAG |
|
TRINUCLEOTIDE REPEATS
- Myotonic Dystrophy |
(myo - T - onic)
- CTG |
|
TRINUCLEOTIDE REPEATS
- Freidrich's Ataxia |
(G-uess A - taxi - A)
- GAA |
|
TRINUCLEOTIDE REPEATS
- Trinucleotide repeats expands when? |
- in Females only
|
|
Renal Manifestation in:
- VHL - Tuberous Sclerosis |
- Bilateral Renal Cell Carcinoma
- Renal Angiomyolipoma |
|
TRISOMY
- Down's syndrome |
Trisomy 21
|
|
TRISOMY
- Edward's syndrome |
Trisomy 18
|
|
TRISOMY
- Patau's syndrome |
Trisomy 13
|
|
DOWN SYNDROME
- primary GI symptom |
- Duodenal Atresia
|
|
DOWN SYNDROME
- primary Heart Dz (specify type) |
- CHD
(Septum Primum-type ASD) |
|
DOWN SYNDROME
- primary CV disease |
- Atherosclerosis
|
|
DOWN SYNDROME
- primary CA |
- ALL
|
|
DOWN SYNDROME
- Pregnancy Quad Screen results |
Decreased Estriol
Decreased Alpha Feto Protein Increased HCG Increased Inhibin A |
|
DOWN SYNDROME
- Ultrasound shows what? |
- increased Nuchal Rigidity
|
|
DOWN SYNDROME
- 95% of cases caused by? - 4% of cases caused by? - 1% of cases caused by? |
- Meiotic Nondisjunction
- Robertsonian Translocation - Mosaicism |
|
DOWN SYNDROME
- which of the 3 causes of Down's is associated with advanced maternal age? |
- Meiotic Nondisjunction
(robertsonian translocation is not associated with maternal age) |
|
EDWARD'S SYNDROME
- List the common unique signs & symptoms. x3 |
(edwards.com)
- Clenched Fist - Occiput prominence - Micrognathia |
|
PATAU'S SYNDROME
- List the common unique signs & symptoms. x5 |
- Microcephaly
- Microphthalmia - cleft lip / Palate - holoProsencephaly - Polydactyly |
|
ROBERTSONIAN TRANSLOCATION
- which chromosomes are mostly associated? |
13, 14, 15, 21, & 22
|
|
ROBERTSONIAN TRANSLOCATION
- which chromosomal arms fuse at the centromere? - which chromosomal arms are lost? |
- Long arms
- Short arms |
|
ROBERTSONIAN TRANSLOCATION
- what type of translocation does NOT cause any abnormal phenotype? |
- Balanced Translocation
|
|
ROBERTSONIAN TRANSLOCATION
- which Trisomy is NOT associated with Robertsonian Translocation? |
- Edward's syndrome (Trisomy 18)
|
|
CRI-DU-CHAT
- mutation on which chromosome? - what type of mutation occurs? |
- Chromosome 5p (short arm)
- Microdeletion |
|
WILLIAMS SYNDROME
- mutation on which chromosome? - what type of mutation occurs? |
- Chromosome 7 (long arm)
- Microdeletion |
|
WILLIAMS SYNDROME
- microdeleted region in Williams syndrome includes what other important gene? |
- Elastin gene
|
|
WILLIAMS SYNDROME
- plasma level changes? - causes what increased sensitivity? |
- increased Ca2+ levels
- Hypersensitivity to Vitamin D |
|
WILLIAMS SYNDROME
- Symptoms x3 |
- Well developed Verbal skills
- "Elfin" facies - Extreme friendliness with strangers |
|
22q11 SYNDROMES
- what type of mutation is involved? |
- Microdeletion
|
|
22q11 SYNDROMES
- list 2 diseases involving 22q11 |
- DiGeorge
- Velocardiofacial syndrome |
|
22q11 SYNDROMES
- etiology? |
- Defective Development of 3rd & 4th branchial POUCHES
|
|
22q11 SYNDROMES
- list 5 primary signs & symptoms |
- Cleft Lip/Palate
- Abnormal Facies - Thymic Dysplasia (==> T-cell def.) - CHD - Hypocalcemia |
|
22q11 SYNDROMES
- what immunologic deficiency seen? - due to what? |
- T-cell deficiency
- Thymic dysplasia |
|
22q11 SYNDROMES
- what plasma level changes seen? - causes what as a result? |
- Hypocalcemia
- Increased Sensitivity to Vitamin D |
|
22q11 SYNDROMES
- DiGeorge Syndrome has what additional defects? x3 |
- Thymic defect
- Parathyroid defect - Cardiac defect |
|
22q11 SYNDROMES
- Velocardiofacial syndrome has what additional defects? |
- Facial defects
- Palate defects - Cardiac defects |