Pharm Exam 1

Front 1

hereditary disorder

Back 1

derived from ones parents transmitted through gametes

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congenital

Back 2

present at birth

Front 3

mutation

Back 3

permanent changes in DNA

Front 4

when are mutations transmitted to progeny

Back 4

when germ cells are affected

Front 5

when are mutations not transmitted to progeny

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when only somatic cells are affected

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genome mutations

Back 6

loss or gain of chromosomes

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chromosomal mutations

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rearrangement of genetic material no gain or loss

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point mutation

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substitution of a single nucleotide base by a different base

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types of point mutations

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"conservative

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missense"

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missense mutation

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a sing base substitution may alter the code replacing one AA with another

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conservative mutation

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little change in function

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nonconservative

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big change in function

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nonsense mutation

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changing an AA code with a stop codon

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frameshift mutations

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deletions or insertions that lead to alterations in the reading frame

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when does a frame shift occure when does it not

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"occurs=deletion or insertion is not three or a mutiple of three

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doesn't occure= when it is three or a multiple of three"

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if a frameshift doesn't occure what happens with deletion or insertion

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an abnormal protein missing one or more AA is produced

Front 19

trinucleotide mutations

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amplification of a sequence of 3 nucleotides all share the nucleotides G and C

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when does amplification increase in trinucleotide mutations

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increases with gametogenesis

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normal human chromosome complement

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"46 XX female

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46 XY male"

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euploid

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an exact multiple of the haploid number of 23

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aneuploidy

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not an exact multiple of 23

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penetrance

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percentage of individuals with an autosomal dominant gene who express the trait

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pleiotrophy

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a single gene mutation may lead to many phenotypic effects

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variable expressivity

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showing a variety of different problems from patient to patient with the same autosomal dominant disease

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when are autosomal dominant disorders manifested

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in the heterozygous state

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who is affected by autosomal disorders and who can transmitt them

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male and female are affected and male and female can transmit the condition

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what are the two main categories of non-enzyme proteins affected by autosomal dominant disorders

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"proteins involved in the regulation of complex metabolic pathways

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key strutrual proteins"

Front 32

the largest group of mendelian disorders

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autosomal recessive disorders

Front 33

when do autosomal recessive disorders so up

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when both alleles at a given locus are mutant

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what is the chance of children getting an autosomal recessive disorder

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1 in 4

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what type of proteins are usually affected in autosomal recessive disorders

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enzyme proteins

Front 36

who transmits X-linked disorders

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heterozygous females

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who expresses x-linked disorders

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virtually only sons

Front 38

who can affected males not pass x-linked disorders to

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their sons

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codomiance

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full expression of both alleles of a given gene pair in a heterozygote