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48 Cards in this Set
- Front
- Back
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What did Mendell, Flemming, Morgan, and Muller discover?
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Mendell : snap peas, inheritance
Flemming: slamanders, chromosomes Morgan: fruit flies, genes on chrom and sex linked Muller: fruit flies, x-rays cause mutations |
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Which chromosomes are acrocentric?
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13, 14, 15, 21, 22
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Duchenne Muscular Dystropy:
-gene is located where? -affects how many of who? |
Xp21
1/3500 males |
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How many base pairs on chromosomes, how many human structrual genes with how many possible derived proteins?
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3 billion base pairs
30-35,000 structural genes more than 100,000 proteins |
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Penetrance vs. Variability?
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Clinically detectable versus severity
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Penetrance can be linked to paternal?
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paternal age greater than 40
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Pleiotropy versus gonadal mosaicism?
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Pleiotropy is affect in many tissues, gonadal mosaicism is some but not all of a healthy person's gamates have the gene mutation
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Marfan syndrome
frequency? spontaneous? diagnosis? ineritance? pleiotropic? penetrance? gene? chromosome? |
1/10000
30 percent spontaneous clinical diagnosis autosomal dominant pleiotropic complete penetrance fibrillin (FBN1) chrom. 15 |
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Acondroplasia
frequency? spontaneous? diagnosis? ineritance? penetrance? pleiotropic? variability? homozygous? paternal age? gene? chromosome? mutation? |
1/10,000 to 1/40,0000
80% spontaneous diagnosed radiographically autosomal dominant complete penetrance pleiotrpic little variability homozygous lethal paternal age a factor fibroblast growth receptor 3 (FGFR3) chrom. 4p A to G mutation: most mutable gene known |
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Neurofibromatosis
frequency? spontaneous? diagnosis? ineritance? penetrance? pleiotropic? variability? paternal age? gene? chromosome? |
1/3,5000
50% spontaneous several clinical traits for diagnosis autosomal dominant pleiotropic near complete penetrance extreme variability paternal age neurofibromin gene (NF1) chrom. 17q |
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Inborn Errors of Metabolism (IEM)
causes effect 1st one described (when)? inheritance |
-mutations in catalytic or transport proteins
-substrate or minor metabolite accumulation, product deficiency, other secondary metabolic phenomena PKU (1938) recessive |
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Lionization refers to? Occurs in which cells at what embryonic stage?
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-the mosaic nature of females randomly expressing either X chrom.
-occurs in each somatic cell at blastocyst stage |
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Inheritence of X-linked traits in this course is considered?
Because? Famous example |
-Recessive
-Dominant X link traits in males tend to be incompatible with life. -Hemophilia |
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Mitochondria
how many in each somatic cell, each egg? how mutable is mtDNA? heteroplasmy is? how many genes? what do genes encode? mutations present when? |
>1000 per cell, >100,000 per egg
10 times more mutable heteroplasmy is some mtDNA but not all in a cell mutated 37 genes OXPHOS, rRNA, tRNA symptoms present from birth to adulthood |
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Nuclear genes for mitochondria
-make what % of mito proteins? -are typically inherited how? |
-85% of mito proteins
-autosomal recessive |
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Leber's Hereditary Optic Neuropathy
-cause -result -onset |
-mtDNA miss-sense mutations of respiratory chain enzyme subunits
-optic nerve degeneration loss of central vision -precipitous vision loss in one's 20s |
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Diploid
-example clinical outcome -genetic material |
-hydatidiform mole : large trophoblast with absent or underdeveloped fetus
-empty egg with 1 sperm or haploid egg with 2 sperm |
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Digynic
-example clinical outcome -genetic material |
-small embryo with underdeveloped placenta
-diploid egg, haploid sperm |
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Diandric
-example clinical outcome -genetic material |
-malformed embryo, hyperplastic trophoblast
-haploid egg with (diploid sperm, 2 haploid sperm) |
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Best understood mechanism of imprinting?
How does this work? |
Methylation of one copy (maternal or paternal) of allele to prevent transcription
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Reversal of imprinting happens when and why?
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during gametogenesis we 'erase' imprints from parents in order to re-imprint the chromosome from opposite sex parent to our own sex
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Which probes detect 43% of aneuploidies? Which probes 79%?
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43% = 5 probes = 13,18,21,X, Y
79% = 9 probes = 13,15,16,17,18,21,22,X,Y |
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Risk of misdiagnosis and reason with PGD FISH? PGD single gene?
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FISH misdaignosis 10-15% : poor hybridization and mosaic
single gene 5-10% : allele dropout |
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3 steps to ovarian stimulation?
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injectable gonadotrophins (GnRH)
daily hormone and ultrasound monitoring hCG injection when follicle 18-20 mm |
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ICSI stands for? Use which oocytes?
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IntraCytoplasmic Sperm Injection
MII oocytes |
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Timeline for IVF, Days 3-5?
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Day 0 oocyte retrieved
Day 1 ICSI Day 3 grading and biopsy Day 3-5 testing Day 5 embryo transfer |
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Difference between abnormal and partial result in FISH PGD?
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-Abnormal: any combination other than 2 for each probe in one cell
-Partial: hybridization failure of at least one but not all probes in one cell |
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Steps and Temps for 3 steps of PCR?
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Denature 94oC
Anneal 54oC Extension 72oC |
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PCR - number of cycles needed for one gene from one cell? How many copies is this?
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35 cycles
2E36 = 68 billion copies |
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Tay-Sachs
inheritance pattern? deficiency in what protein? how many mutations? most common mutation? |
Tay-Sachs is autosomal recessive deficiency in Hexoaminidase A (HEXA).
Over 40 known mutations TATC insertion most common |
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Sickle cell mutation - HBB
chromosome location? |
11p15
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HLA geneotyping
chromosome location? interested in which MHCs? |
6p21
A&B (class 1), DR (class 2) |
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Why is whole genome amplification not a good idea in PGD?
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Not easy with only one cell.
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Definition of a pheneocopy?
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Phenotype caused by environment, as opposed to gene.
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Definition of familial aggregation?
sibling pairs versus generational tree? |
-increased risk of disease with affected family member
-sibling pairs good for late onset, generations for early onset |
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3 main approaches to genetic studies?
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-candidate gene
-positional cloning -genome wide association studies (GAWS) |
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SNPs are how common?
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1/600 base pairs
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NOS3
-what protein -what disease implications -disease primarily with what population |
-endothelial nitric oxide synthase
-endothelial NO is vasodilator linked to stroke with NOS3 defect -disease risk primarily among African Americans |
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Positional cloning identifies what and where?
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Positional cloning identifies a candidate gene for phenotype in a region of a chromosome (candidate region)
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Polymorphisms in Positional Cloning include
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micro-satleites and SNPs
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GAWS and the segregation of loci within families violoates whose law?
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Mendel's law of independent assortment
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pp + 2pq + qq =
A + a = incidence = carrier frequency = |
1
1 2pq |
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Hardy-Weinber assumptions about mating and allele frequencies?
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-Random mating
-Allele frequencies are constant : constant mutation rate, no migration, so selection against genotype |
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Direct DNA testing requires?
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known mutation
CLIA lab |
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Indirect DNA testing requires what 5 conditions? aka?
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-marker(s) flanking or within a gene, close link between markers and disease, family study, known paternity, no recombination
-aka Linkage Analysis |
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Southern blotting can not detect-
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SNPs or small deletions
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Severe hemophilia is most often associated with what genetic change? - detect with
Mild and moderate? -detect with |
inversion of intron 22 or 1 of F8 gene (X chromosome) - southern blot or inverse PCR
moderate mis-sense, splicing, in-frame deletions - PCR or DNA sequencing also detect with linkage anaylsis |
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Marfan syndrome is inherited how?
is defect in what? gene identified how? |
autosomal dominant
fibrillin-1 gene: mutations all across gene, specific to each family cDNA or linkage anaylsis |
