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46 Cards in this Set
- Front
- Back
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Trait produced by single gene is |
monogenic or mendelian trait |
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autosomal chroms are chroms |
1-22 (not sex chroms) |
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Principle of segregation (1st law): -ppl possess genes in _. only one of each pair is _. -genes remain _ and _ in the next generation. NOT blended -offspring can transmit _ genes |
-pairs, transmitted to offspring -intact and distinct -the intact genes |
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Principle of independent assortment (2nd law) -genes that live in different _ are transmitted _ -so an allele transmitted at one locus has no influence on _ |
-loci, independently -on which allele is transmitted at another locus |
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dominant allele will _ recessive |
mask |
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Punnett square and diseases: If mutant allele is dom: TT= Tt= tt= |
-usually lethal -affected hetero -homo for normal allele |
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recessive disease: normal allele is dom (T) TT= Tt= tt= |
-homo for normal -carrier hetero (usually unaffected) -homo for mutant |
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Probability AND: use_ OR: use_ |
AND=multiply OR=add |
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gene frequency: -how often particular _ happens in population genotype frequency: -how often a _ happens in pop |
-gene sequence (t) -given genotype (tt) |
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hardy weinberg eqn is |
p^2 + 2pq + q^2 = 1 = (p+q)^2 p + q=1 (because there are only two alleles) |
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hardy weinburg conditions: -large -random -no -no |
-large populatino -random mating -no mutations, migratinos -no natural selection |
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when family (individual) history is available, weuse it to calc gene and genotype frqncy. if not avail, we use _ |
hardy weinberg, uses population info |
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pedigrees show members of family that _ |
are affected, or appear unaffected (dont show genotypes, just pheno) |
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autosomal dom diseases are _ in population. they often involve _ (ex collagen) ex of disease: |
rare nonenzymatic structure proteins (like collagen) ex: Ehlers Danlos syndrome (stretchy skin) |
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Chars of autosomal dom diseases: 1) two sexes rate: 2) affected ppl transmit trait to _ of their offspring. unaffected dont transmit 3) no _ 4) father to son transmission _ occur |
-equal in both sexes -half -no skipping generations -can |
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Occurence risk: -risk of making affected child when _ Recurrence risk: -risk on making affected child when _ |
-when no chlidren have been made yet -whne one or more child has been made with the disease |
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Auto dom inherited diseases: 1) Huntingtons: -gene: -type: -symptoms: progressive _, choreic movements |
-huntingtin (HD) -trinucleotide repeat expansion -dementia, late onset -homozygotes can survive |
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2) Achondroplasia (auto dom) -gene: -what happens: -sympts: |
-FGFR-3 (fibro growth factor receptor gene 3) -glycine to arginine missense mutation, gain of fncn mutation -dwarf -homozygotes more severely affected |
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3) Neurofibromatosis type 1 (auto dom) -gene: -sympts: -weird bc: |
-NF1 -cafe au lait, neurofibromas, lisch noduels, learning disabilities -lots is from de novo mutations, lots of difference in symptoms so hard to tell |
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4) Marfan (auto dom) -gene: -sympts: -how many from de novo mutation? |
-FBN1 (fibrillin) -tall, hrt defects -25% are de novo |
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5) Familial hypercholesterolemia (FH) auto dom -gene: -type: -sympts: high_, choles deposits in _, _,_ -homozygous FH: same clinical features but _ |
-LDL receptor gene -loss of fncn mutation -high LDL in plasma, deposits in tendons, skin, and later in arteries -only earlier and more extreme |
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Lec 9 |
... |
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parents of child that gets autosomal recessive disease are usually both |
hetero carriers |
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most genetic defects in _are inherited by auto rec. |
metabolism |
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Chars of auto recessive inheritance: 1) disease usually seen in _, but not in _. Often no prior _, unless theres _. 2) Males and females are _ affected 3) can skip 4) Consanguinity is present more often in pedigrees with auto rec, especially rare ones |
-more than one sibling, but not in earlier generations. no fam history, unless consanguinity -equally -generations |
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do hardy weinberg practice Q that I took pic of |
... |
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Autosomal Recessive inheritance diseases 1) Hurlers -gene: -sympts: -treat: |
-alpha-L-iduronidase -short, coarse, mental, corneal clouding -targeted enz replacment, bone marrow transplant |
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2) Hereditary Hemochromatosis (HH) auto rec -gene: -type: -result is: -extra iron accums -more _ are affected |
-HFE gene -missense mutation -iron overload -more males affected |
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Complications to pattern of inheritance 1) de novo mutation: -newborn with _ when there is no fam history -many of the dom diseases are new mutations (ex _ and _) -recurrence risk is_ -occurence for their offspring is_ |
-dom genetic disease -achondroplasisa, NF1 -low -50% for their offspring |
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2) Germline mosaicism -cells that turn into sperm and egg are made of _ -makes confusing outcomes -when there are two or more offspring with auto dom disease, with no fam history, should consider _ -EX: ___ (makes recurrence risk _) |
-more than one distinct population of cells -germline mosaicims -osteo imperfecta (higher) |
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3) Delayed age of onset -genetic disease that doesnt show until _ -ppl can be unaware that they have it, pass it on EX: |
adulthood -huntingtons, hemochromatosis |
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4) Reduced penetrance (aka incomplete penetrance) -Penetrance is the proportion of ppl carrying a genotype that also _ -EX _ (penetrance is 90% so that many ppl will have the disease and 10% will not.) -can still pass onto later gens tho |
-show the phenotype -Retinoblastoma |
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5) Variable expression -has nothing to do with _ -affects the _ -EX: _ |
-penetrance -affets severity of symptoms -ex: NF1 (can have varying symptoms, but has 100% penetrance) |
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6) Pleiotropy: -a pleiotropic gene is one gene with effects on _ ex: |
-multiple aspects of physiology or anatomy -ex: Marfan, cycstic fibrosis |
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7) Heterogeneity -a heterogenous disease is when _ can produce same phenotype ex: |
-mutations at dif gene loci -osteo imperfecta (can come from mutations on 2 dif genes) |
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8) Genomic imprinting -alters expression of genes such that _ and _ chroms contribute dif amnts of a gene product -imprinting SILENCES the _ -exs are _ and _ |
-paternal and maternal -silences the gene -Angelman and Prader-Willi syndromes |
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8)Genomic imprinting -Classic ex of imprinting is _ of genetic material on _ of chromosome _ ----> if deletion is inherited from FATHER, offspring gets _ ----> if deletion is inherited from MOTHER, offsppring gets _ -these are _, but two dif diseases |
-deletion,, long arm, chrom 15 -FATHER=Prader-willi -MOTHER=Angelman -genetically identical, but two dif diseases |
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Prader-Willi syndrome: -gene: Angelman: -gene: Only one copy of each of these genes should be expressed in normal person. Other copy of the gene (on _) is _. |
PW gene: SNRPM Angel gene: UBE3A -opposite chrom 15, imprinted (silenced) |
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A healthy person expresses the: -_____gene from the maternal chrom (other is silenced) -_____gene from paternal chrom (other is silenced) |
HEALTHY person: -UBE3A from MATERNAL chrom -SNRPN from PATERNAL |
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Angelman syndrome: -absence of fncnal _ gene on maternal chrom 15 (and silenced on paternal chrom) Prader-Willi: -absence of fncnal _gene on paternal chrom 15 (silenced on maternal chrom) |
-Angel: UBE3A -PraderW: SNRPN |
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Angel symptoms: -mental _ -seizures -ataxic _ -weird stance |
-retardation -ataxic gait |
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Prader willi symptoms: -short -_tonia -small _ -obese -mild mental retardation |
-hypOtonia -small hands/feet |
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9) Anticipation: -displays _ age of onset, and more _ expression in recent generations -exs: myotonic _, Fragile _, hunt_ |
-early, severe -myotonic dystrophy, fragile X, huntingtons |
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Ex of anticipation: Myotonic dystrophy: --progressive _ --gene: -type: expansion of _ repeat -Reason for anticipation: number of repeats _ in generations. Slippage of _ during DNA rep is the cause. |
-muscle deterioration -gene is DMPK -expansion of trinucleotide repeat -increases, DNA polymerase |
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10) Consanguinity -more likely to make offspring that have _ disorders -Genetic burden: each person carries 5 _ in hetero form that would be lethal if they were homo form |
-Autosomal RECESSIVE -recessive genes |
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Amish, Mennonite, Hutterite recessive diseases: - Co_ -Crigler- -Ellis- -Many meta_ disorders |
-Cohen -Crigler-Najjar -Ellis-van Creveld -many metabolic |
