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31 Cards in this Set

  • Front
  • Back
euploidy
cells that contain only complete sets of chromosomes
Aneuploidy can result from non-disjunction in _________ meiotic division
either the first
or second
Turner’s syndrome =
XO
Klinefelter’s syndrome =
XXY
Barr body
transcriptionally
inactivate one X chromosome in XX
individuals
How many Barr bodies would you see in:


a XY male?

a XX female?

a XXY male?

a XXX female?

a XO female?
a XY male? 0

a XX female? 1

a XXY male? 1

a XXX female? 2

a XO female? 0
If X linked recessive:
more males will have the trait
the mutation will never pass from father to son
affected males will pass the mutation to their daughters who will be carriers
rare affected females will have sons with the trait and her daughters will
be carriers
If X linked dominant:
more females than males show the trait
all the daughters, but none of the sons, of an affected male will be affected
one half the sons and one half the daughters of an affected female will be
affected
the trait is seen in every generation
If Y linked:
the trait is seen only in males
all males descended from an affected male have the trait
women do not exhibit the trait nor do they transmit it
Joe visited a fertility clinic and was found to have a 44+XXY chromosome composition and to be sterile. Which of the following would NOT explain how Joe inherited his unusual set of sex chromosomes?

A) non-disjunction in Mom during meiosis I
B) non-disjunction in Mom during meiosis II
C) non-disjunction in Dad during meiosis I
non-disjunction in Dad during meiosis II
all of the above could have given Joe his XXY
non-disjunction in Dad during meiosis II
null or amorphic is?
loss of function
dominant or recessive:

null or amorphic
recessive
dominant or recessive:

hypermorphic
recessive
dominant or recessive:

haploinsufficient
dominant
dominant or recessive:

gain of function or neomorphic
dominant
prototroph
makes its own factors and can grow on minimal media
null mutation
no functional protein
True or false?

most mutations eliminate or impair protein function
True!
hypomorphic mutation
reduced protein or reduced function
neomorphic mutation
protein has novel function
(e.g. Huntington’s disease)
or is expressed & functions at wrong time
or in wrong place
(e.g. Antennapedia in fruit flies)
hypermorphic mutation
too much or too active
protein messes things up
dominant negative mutation
one aberrant
subunit cripples a multi-subunit complex
Meiotic recombination “_____” genes on the same
chromosome
Meiotic recombination “unlinks” genes on the same
chromosome
genes that are on the same
chromosome but are far apart
will exhibit __% recombination
frequency
genes that are on the same
chromosome but are far apart
will exhibit 50% recombination
frequency
Genes that are linked exhibit ___%
recombination frequency
Genes that are linked exhibit <50%
recombination frequency
1 map unit (m.u.) = _% recombination = _ centimorgan (cM)
1 map unit (m.u.) = 1% recombination = 1 centimorgan (cM)
The G and H genes are 20 m.u. apart on chromosome 3.
In a population of gametes from a gh/GH individual, what % of chromosome 3’s would you expect to be recombinant?
20%
The G and H genes are 20 m.u. apart on chromosome 3.
In a population of gametes from a gh/GH individual, What % of chromosome 3’s would you expect to be gH?
10%
The B and E genes are 10 m.u. apart on chromosome 21.
In a population of gametes from a Be/bE individual, what % of chromosome 21’s would you expect to be parental?
90%
The S and T genes are far apart (i.e. at opposite ends) on chromosome 8. In a population of meiosis events, what % of meiosis events would you expect to have a c.o. (at least 1) between the S and T genes?
100%
The G and H genes are 20 m.u. apart on chromosome 3.
In a population of meiosis events from a gh/GH individual, what % of meiosis events would you expect to have a c.o. between the G and H genes?
40%