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| normal mice and cells can be called? |
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| genes are mutant and ppl are not |
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| alternative form of a gene |
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| different allels at a locus |
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| physical observation (disease) |
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| heterozygote has phenotype |
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| homozygouse has phenotype |
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| same gene (at different location) has a mutation that leads to a different disease aka multiple endocrine neoplasia and hirschprungs |
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| genetic heterogeneity: allelic heterogeneity |
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| different mutation on the same gene has the same disease result aka CF |
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| different mutations on different genes result in the same disease aka retinis pigmentosa (38 genes) |
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| first person in family tree with the disease |
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| who brings the disease into the doctors attnetion |
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| is listed oldest first left to right |
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| if 1 parent has Aa in Autosomal dominace and the other has aa, what is the probability of the child having disease |
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| what is the difference in probablility of males and femals getting an Autosomal dominace disease |
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| in addition to age and race what other factors are important to know when looking at family history |
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| country of origin, anyone in family who has died and with what illness, what age did they die, etc |
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| A.D. - half of the normal protein is not enough, need all of normal protein for proper function, 1/2 the normal gene only produces 1/2 the normal protein, 1/2 the normal gene only produces 1/2 the normal protein |
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| A.D. mutant protein can soak up the functional activity of the normal protein making it not work or decreasing function |
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| A.D. when mutant protein results in a new function that is differenat than normal function |
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| suppressors/ loss of heterozygosity |
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| A.D. a protein that was supposed to normally stop some function can no longer do so because it is mutant and therfore that molecular process cannot be suppressed |
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| -1 copy of gene can be mutant |
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| familial adenomatous polyposis - what type of gnetic disease |
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| 4 traits of autosomal dominant disease |
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| 1. vertical transmistion 2. male and female at equal risk, 3. all affected have an affected parent USUALLY 4. 50% risk to each pregnancy usually assuming only 1 parent has it and is Aa |
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| 5 things that can fool you for A.D inheritance |
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Definition
| penetrance, advance paternal age, delayed onset, variable expressivity, anticipation |
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| Advanced paternal age define and 1 disease |
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Definition
| new mutation cause autosomal dominance trait rather than family history due to older age of parents at conception, in achondroplasia 80% of affected individuals come from a new mutations rather than family history and will be a genetic condtion for that family from then on |
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| disease skips a generation |
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| the individual that has the AD allele in blood but does not express trait (skipped person) |
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| delayed onset define and disease |
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| when the disesase does not show up until later in life . ppl have kids before disease shows up which spreads disease to children, huntingtons avg age on onset is 38 years |
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| variable expressivity define and 2 disease |
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Definition
| disease can be extreme or have very minimal effects. makes it hard to know how the diesase will affect the pateint. Stays the same degree throughout life time. neurofibromatosis 1 and holoproencaphaly, marfan syndrome |
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Definition
| as you move through the pedicgree there is earlier onset in newer generations due to more repeats in DNA as you ge tto the bottom of the pedigree |
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| Things to consider for AD (5) |
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Definition
| germline mosaicism, phenocopy, non-paternity, somatic mosaicism |
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| parents have mutation stored in gameets but dont have the trait, can pass it on to thier children. Easy to find in male sprem. If two children have diesases but family does not , it is good to look at germline mosiacism as a reason |
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| the same disease has different etiologies (ages) and different causes could be for each (enviornment vs gene) |
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| when the presumed father is not the biological father by father or physician , happens 5-10% of the time, considered ne wmutaitons |
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| disease can affect multiple cell lines and tissues. when it affects 1 tissue nothing ahppens, but if it affects the other the disease sshows |
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| % chance to get A. R recesssive allel from each parent with a recessive allel |
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| % risk of AR disease if both parents are carrier, % of not being affected or carrier |
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Definition
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| what is the probability of having 3 affected children with an autosome recessive disease if both parents are carrieres |
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| autosomal recessive need what 2 conditions |
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| large sub ships or consanguinity because the traist appear sporadic other wise |
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| Tay sachs (red cherry spot), beta-thalassemia (bone marrow expansion in unorthodox areas), |
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| are males or females normally affected by x linked recessive |
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| are sons of affected fathers affected or not affected |
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Definition
| not affected because father gives the y |
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| are daughters of effected father affected or not affected |
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Definition
| they are atleast obligate carriers |
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Term
| example of x linked recessive |
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Definition
| hemophilia A of factor 8 deficiency |
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| characterisitcs of x linked recessive (6) |
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Definition
| full expression in males, males ore hemizygous, femalse can sometimes be affected if father is affected and mother is a carrier or if one x is inactivated due to lyonization, daughter of affected males are all obligate carriers ATLEAST, sons of affected fathers are normal |
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| if x linked recessive is common what will yo u see? example of common x linked recessive disease |
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Definition
| male to male transmission due to more females being carriers as well as more affected femalse G6P defficiency |
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| Example of X linked dominant |
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Definition
| congenital generalized hypertrichosis (hair face), incontinentia pigmenti (swirls of skin), rett syndrome (hand ringing) |
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| characteristics of x linked domoinant (2) |
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Definition
| 1. no male to male transmission because 2. disease is mostly lethal for male or manifests differently in males |
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| almost all mitochondrial info comes from mother or father |
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Definition
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| degree of mitochondria or tissue that is affected with disease, can be different or variable among siblings |
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| Examples of Mitochondrial disease |
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| Why is mitochondrail disease used for forensics |
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Definition
| because it is easy to track female lineage and it is also more stable than the longer genetic copy because more copies per cell |
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| mitochondrial disease phenotype depends on..(5) |
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Definition
| oxphos capacity of tissue, # of mitochondria, oxphos reqquired, age, degree of heteroplasmy |
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