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

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Definitions:

Peritubular Capillary

Capillary network located in the cortex of the kidney; associated with the distal and proximal convoluted tubules.

Nephron

The basic structural and functional unit of the kidney, responsible for water and electrolyte balance.

Capillary Networks

The extensive networks of capillaries (small blood vessels) that supply tissues with nutrients and oxygen and remove waste products.

Peritubular Capillary

The peritubular capillaries are a network of tiny blood vessels that surround the tubules in the kidney, involved in the reabsorption and secretion processes during urine formation.