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Kaplan Qbank USMLE



Author16 Posts
  #1

Autosomal recessive conditions are correctly characterized by which of the following statements?


a) Most persons do not carry any abnormal recessive genes.

b) Both alleles contain the same mutations.

c) Affected individuals are likely to have affected offsprings.

d) They are often associated with deficient enzyme activity.

e) They are often more variable than autosomal dominant conditions.






  #2

d) They are often associated with deficient enzyme activity.

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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."

  #3

dnod

  #4









  #5

D

  #6

b) Both alleles contain the same mutations.
Why ain tthis a possibiliity . . ???? Can the mutation be at two diff allels .. and still the disease may manifest it self .. Any example in case I am missin on one .. !! smiling face

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... Idle hands are the DeVilS play ground ...

  #7

Its very unlikely to have 2 unrelated persons to have allels with the same mutation.

Think of it this way, what are the odds of 2 DNA molecules which consists of millions of bps have to the same point mutation on the same locus. Yes, extremely rare.

___________________
There are many things in this world that can’t be changed no matter how hard you try. That’s why you must not hesitate when the time comes where you have to give it all you’ve got.

  #8

D, on the other hand, structural anomalies are usually autosomal dominant

  #9

i picked d too...

  #10

Jackofknives Posted May 24, 07 - 21:52:

Its very unlikely to have 2 unrelated persons to have allels with the same mutation.

Think of it this way, what are the odds of 2 DNA molecules which consists of millions of bps have to the same point mutation on the same locus. Yes, extremely rare. .. But hey Jack .. if there aint the same Mutation in the SAME ALLELE .. wont an AUTOSOMAL RECESSIVE disease ... NOT express itself .. ???

___________________
... Idle hands are the DeVilS play ground ...

  #11

The answer is D.

  #12

I dont get it...accordin to what I think ...it should be B

I am with addicudo...

there should be HOMOZYGOSITY for autosomal recessive diseases to express themselves...

  #13

and the mutation should be SAME...

  #14

it shuld be d.....

  #15

Addicudo wrote:
Jackofknives Posted May 24, 07 - 21:52:

Its very unlikely to have 2 unrelated persons to have allels with the same mutation.

Think of it this way, what are the odds of 2 DNA molecules which consists of millions of bps have to the same point mutation on the same locus. Yes, extremely rare. .. But hey Jack .. if there aint the same Mutation in the SAME ALLELE .. wont an AUTOSOMAL RECESSIVE disease ... NOT express itself .. ???



Its more common for people with a autosomal recessive condition to have heterogeneous mutations on the two allels that you have on the homologous chromosomes, or for the same protein for that matter. Say 4q32 codes for an important protein, you may have recieved a point mutation there from your father and a frame-shift mutation from your mother, the end result is abberant production of this essential protein rendering it useless. This case is much more common among patients who parents are not related to each other.


___________________
There are many things in this world that can’t be changed no matter how hard you try. That’s why you must not hesitate when the time comes where you have to give it all you’ve got.

  #16

Aha I didn't even know there was a discussion going. haven't I already said Yes to D?????grin







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