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Aniridia: Quiz


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Question 1: [1] This PAX6 gene is around 95% similar to the pax gene found in ________, a creature which diverged from the human ancestry around 400 million years ago.
Model organismEnsemblHomoloGeneZebrafish

Question 2: Aniridia is a rare congenital condition characterized by the underdevelopment of the ________'s iris.
BrainSensory systemNervous systemEye

Question 3: Defects in the PAX6 gene cause aniridia-like ocular defects in mice (as well as ________).
DrosophilaMaizeModel organismDrosophila melanogaster

Question 4: It is associated with poor development of the ________ at the back of the eye preventing normal vision development.
RetinaScleraCiliary muscleIris dilator muscle

Question 5: Sporadic aniridia mutations may affect the WT1 region adjacent to the AN2 aniridia region, causing a kidney cancer called nephroblastoma (________).
ICD-10 Chapter II: NeoplasmsAngiomyolipomaWilms' tumorMalignant fibrous histiocytoma

Question 6: Hereditary aniridia is usually transmitted in an ________ manner (each offspring has a 50% chance of being affected), although rarer autosomal recessive forms (such as Gillespie syndrome) have also been reported.
GeneticsGeneDominance (genetics)Allele

Question 7: These patients often also have genitourinary abnormalities and ________ (WAGR syndrome).
Mental disorderMental retardationSchizophreniaAlzheimer's disease


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