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Question #45559
The Question
A genetic disorder in humans is caused by a mutation in a single autosomal gene that codes for a metabolic enzyme. The deficiency of this enzyme leads to the accumulation of toxic metabolites, resulting in severe neurological degeneration and secondary testicular atrophy causing infertility. Which of the following statements regarding this genetic phenomenon is INCORRECT?
Options
- A.
The underlying mechanism is pleiotropy, where the mutation affects a single metabolic pathway resulting in multiple phenotypic expressions.
- B.
The infertility in this patient is a primary reproductive defect caused by the mutation of a Y-linked holandric gene.
- C.
Phenylketonuria (PKU) exhibits a similar genetic principle, manifesting as mental retardation and reduction in hair and skin pigmentation.
- D.
The diverse phenotypic effects observed are the cascading systemic fallout of a primary metabolic defect rather than multiple independent gene mutations.
Check Your Answer
Correct Answer
Step-by-Step Solution
Explanation
How the Examiner Thinks
Comparative_Analysis
Sharpen your ability to evaluate multiple scenarios and distinguish between competing potential answers.
Concepts Behind This Question
Infertility Definition|Pleiotropy Logic|X-linked Genetic Disorders
Why This Question Is Tricky
Common Mistakes
Conceptual Pivot: Students often confuse the symptom (infertility) with the genetic location (sex chromosomes).
The trap relies on the misconception that any reproductive failure must stem from a sex-linked or primary reproductive gene, ignoring the systemic cascading effects of autosomal pleiotropic genes.
Quick Facts About This Question
Question Information
| Subject | Biology |
| Chapter | Reproductive Health - Class 12 |
| Concept | Infertility Definition |
| Difficulty | 8 |
| Cognitive Load | 5 |
| Target Solve Time | 120 sec |
| Access | Free |