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8. The accompanying photo shows a Southern blot of the FMR-1 gene (Xq27.3) for eight patients (lanes 1-8). Lane 9 is a normal

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Answer #1

The correct option is b (This is a male with fragile X syndrome).

Fragile X syndrome is a common genetic disorder affecting both male and females and causing metal retardation. It occurs due to CGG expansion in FMR-1 (familial metal retardation-1) 5' UTR region. CGG repeats causes FMR-1 silencing due to CpG island methylation. Southern blot is a popular method for detection of FMR-1 silencing. In a typical southern blot:

  • Normal female: displays two bands of 2.8 kb and 5.2 kb each.
  • Normal male : displays one band of 2.8 kb
  • Full mutation female: displays two bands: one of 2.8 kb and other band bigger than 5.2 kb.
  • Full mutation male (Fragile-X syndrome males) displays one band greater than 5.2 kb in size.

Lane 6 is displaying one band greater than 5.2 kb, hence, this represents a male with fragile X syndrome.

Option a is incorrect: In Female with fragile X syndrome, southern blotting displays two bands for FMR-1 mutation. Hence, this option is incorrect.

Option c and e are incorrect: Huntington disease can not be measured by FMR-1 southern Blotting. Hence, these options are incorrect.

Option d is incorrect: It is mentioned in the question itself that lane 9 is showing normal female. Hence, this option is incorrect.  

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