Positional Cloning Identified the Human Homologue of the Drosophila Patched

Multiple Choice

Positional cloning identified the human homologue of the Drosophila patched (PTCH) gene as a candidate gene for the human disorder NBCCS or Gorlin syndrome.Screening of the patched coding region revealed a wide spectrum of mutations in NBCCS patients.Most of these mutations were predicted to result in premature protein truncation.What phenomenon would the researchers look for in the patients?

A) haploinsufficiency for the protein
B) recessive familial pattern of inheritance
C) predisposition to developmental abnormalities of the brain
D) incomplete formation of the forebrain
E) Shh mutations