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Kaplan Qbank USMLE



Author9 Posts
  #1

42. A female neonate has profound hypotonia. The only known complication of pregnancy was polyhydramnios. The mother has a lack of facial expression and weak muscles; she says she did not have any problems as an infant or child. Which of the following best explains the difference in presentations in the mother and child?



A) Anticipation



B) Delayed onset



C) Genetic heterogeneity



D) Incomplete penetrance



E) Pleiotropy



44. Double-stranded DNA can be denatured by heating and renatured by cooling. Renaturation under conditions of high stringency has which of the following effects?



A) Considerable base mismatching is permitted



B) GC base pairing is inhibited



C) GT base pairing is promoted



D) Mismatched DNA hybridization is prevented


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  #2

1. A

2.D


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  #3

A

D


  #4

isnt 1 D?

  #5

ok now i understand why its not d, b/c in anticipation severity of disease worsens or age of onset of disease is earlier in succeeding generation. (FA).



Whereas in incomplete penetrance, not all the individuals with the mutant genotype show the mutant phenotype.


  #6

The first q is describing myotonic dystrophy with anticipation with earlier generations? Right?

Can anyone please explain the answer for the second q?

Thanks. smiling face
Good job everyone! smiling face

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  #7

for 44 try this:

http://oregonstate.edu/instruction/bb492/lectures...


  #8

hey virgo. may be i look funny.when you make any thing well monitored and in highly stringent and strict conditons what would be the reslut. it is less mismatch and correct match(not the residency match thoughgrin)

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  #9

thanks endocrine and msyamp:
I was wondering what exactly is meant by more stringent conditions. Here it is:
  • renaturation under stringent conditions (e.g., shift from 100 degrees C to temperature about 25 degrees C below the Tm) can result in perfect base-pairing of homogeneous DNA (i.e., reconstitution of original double-stranded DNA). Note: Mismatched sequences can be distinguished from perfectly matched sequences. The melting temperature is reduced 1 degree C for every 1% mismatch (for example, 1 mismatch out of a sequence of 25 is 4% mismatch and a 4 degree C drop in melting temperature).

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