Positional Cloning Identified the Human Homologue of the Drosophila Patched

question 42

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

---

Definitions:

Testosterone Deficiency

A medical condition where the body produces insufficient levels of testosterone, impacting various bodily functions and well-being.

Cognitive Functioning

The capacity of the brain to process information, encompassing aspects like memory, attention, and problem-solving.

Cognitive Development

The process by which individuals acquire and understand knowledge, develop problem-solving skills, and mature intellectually through various stages of life.

Multidirectionality

The principle that different cognitive abilities can change in different directions and rates over the lifespan.