Term
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Definition
| A chart that shows genetic relationships among related individuals |
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Term
| inheritance of marfan's syndrome |
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Definition
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Term
| how do you know if something is dominant by a pedigree |
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Definition
| it is in every generation |
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Term
| how do you know if something is autosomal in a pedigree |
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Definition
| it shows up in both sexes |
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Term
| what do recessive diseases do in pedigrees |
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Definition
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Term
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Definition
| passed from mother to son |
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Term
| sex-links traits in daughters |
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Definition
| from fathers/ daughters only carriers |
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Term
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Definition
| governed by more than one gene |
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Term
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Definition
| The number, size and shape of the chromosomes of a somatic cell arranged in a standard manner. |
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Term
| how many chromosomes does a normal person have |
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Definition
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Term
| how many chromosomes does each parent give to offspring |
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Definition
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Term
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Definition
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Term
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Definition
| 22 pairs of chromsomes other than sex chromosomes |
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Term
| how many bases/ genes does chromsomes 22 (smallest) have |
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Definition
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Term
| chromosomal address x(q or p)y find x |
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Definition
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Term
| chromosomal address x(q or p)y find p or q |
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Definition
| q is long arm and p is short arm |
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Term
| chromosomal address x(q or p)y find y |
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Definition
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Term
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Definition
| DNa to protein to trait/ DNA contains the code for making proteins and proteins determines the trait |
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Term
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Definition
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Term
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Definition
| carry out a function for the organism |
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Term
| what do mutated genes result in? |
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Definition
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Term
| why is alkaptonuria special? |
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Definition
| it was the first disorder to be associated with a gene |
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Term
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Definition
| blackened urine; arthritis |
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Term
| how is alkaptonuria inheritated |
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Definition
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Term
| why is alkaptonuria autosomal recessive? |
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Definition
| often skipped a generation; inbred people |
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Term
| who coined inborn errors of metabolism? and when? |
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Definition
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Term
| why is urine balck in alkaptonuria? |
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Definition
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Term
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Definition
| when amino acids phenylalanine and tyrosine are broken down |
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Term
| what is responsible for breaking down HGA |
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Definition
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Term
| how many enzymes are defective in alkaptonuria? |
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Definition
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Term
| What is responsible for screwing up the enzyme that breaks down HGA |
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Definition
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Term
| what is an inborn error of metabolism? |
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Definition
| inherited condition where an enzyme is not functioning |
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Term
| autosomoal dominant is when |
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Definition
| a condition is dominant and not on a sex chromosome |
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Term
| autosomal recessive is when |
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Definition
| a condition is not on a sex chromosome and is recessive |
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Term
| sex-linked conditions are |
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Definition
| usually located on the X chromosome and occur more in males |
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Term
| how rare is alkaptonuria? |
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Definition
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Term
| how many mutations in the gene HGD are known to cause Alkaptonuria? |
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Definition
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Term
| how is PKU, phenyketonuria inherited? |
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Definition
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Term
| what does the mutation that causes PKU do? |
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Definition
| screws up gene that makes the enzyme that breaks down phenylalanine |
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Term
| what builds up in a person with PKU? |
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Definition
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Term
| what does a build up of phenylalanine cause? |
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Definition
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Term
| what is the treatment for PKU? |
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Definition
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Term
| what does the enzyme effected during PKU usually do? |
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Definition
| breaks down phenylalanine into tyrosine |
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Term
| how is huntington's disease inherited |
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Definition
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Term
| who first described huntington's disease?when? |
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Definition
| George Huntington in 1872 |
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Term
| symptoms of huntington's chorea? |
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Definition
| chorea refers to lack of muscle control |
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Term
| what causes lack of muscle control in huntington disease? |
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Definition
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Term
| when do symtoms begin in huntington's disease? |
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Definition
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Term
| Nancy Wexler and huntington's disease |
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Definition
| research lead to discovery of gene and development of genetic test |
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Term
| what causes the mutation of the gene that causes huntington's? |
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Definition
| too many repeated triplets of CAG |
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Term
| what does CAG code for in the huntington's disease? |
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Definition
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Term
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Definition
| The vampire disease/ disorders that cause abnormalities in the chemical steps the lead to heme production |
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Term
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Definition
| a component of hemoglobin that carries oxygen to the blood |
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Term
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Definition
| mostly in blood, the liver, and marrow |
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Term
| what does the mutation in porphyria do? |
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Definition
| screws up heme production |
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Term
| what enzyme is lacking in prophyria? |
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Definition
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Term
| what is the symptoms of porphyria? |
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Definition
| sun-sensitive , cramps, seizures, purples urine, hallucinations |
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Term
| what caused the madness of King George? |
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Definition
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Term
| why were king george's symtoms so severe? |
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Definition
| a medicine he took contain arsenic which interferes with heme production |
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Term
| what are the symptoms of marfan syndrome? |
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Definition
| long limbs and fingers/long face/vision problems/ heart problems |
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Term
| what is the mode of inheritance of prophyria? |
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Definition
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Term
| what is the nheritance of marfan's? |
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Definition
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Term
| what is marfan's syndrome a disorder of ? |
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Definition
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Term
| what chromosome is the mutation that causese marfan's? |
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Definition
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Term
| what protein is coded for in the gene where the marfan's mutaiton takes place? |
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Definition
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Term
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Definition
| binds itself to other proteins and molecules to form microfibrils |
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Term
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Definition
| become part of the fibers that provide strength and felxibility to connective tissue |
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Term
| how is werewolf syndrome (hypertrichosis)inherited |
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Definition
| sex-linked on x chromosome |
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Term
| what kind of mutation happens in werewolf syndrome? |
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Definition
| an atavistic mutation (return to ancestral phenotype) |
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Term
| werewolf syndrome in women |
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Definition
| much more rare/ due to x chromosome inactivation/ hair occurs in patches |
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Term
| how is hemophilia inherited? |
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Definition
| sex-linked in the x chromosome |
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Term
| what famous person had hemophilia |
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Definition
| Queen Victoria of England |
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Term
| what are the symptoms of hemophilia? |
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Definition
| blood doesn't clot normally/ internal bleeding |
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Term
| how many genes cause hemophilia? |
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Definition
| two genes/ two types of hemophilia |
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Term
| old treatment of hemophilia |
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Definition
| transfusion of blood/plasma |
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Term
| 70-80s treatment of hemophilia |
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Definition
| clotting factors transfused (contracted AIDS a lot) |
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Term
| Treatment of hemophilia now |
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Definition
| cultures of clotting factors |
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Term
| future treatment of hemphilia |
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Definition
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