General Pathology Practice Questions

Q: Which gene is involved in Rett syndrome?

MECP2. **Explanation:** **Rett Syndrome** is a rare neurodevelopmental disorder that primarily affects females. The correct answer is **MECP2** (Methyl-CpG-binding protein 2), located on the **X chromosome (Xq28)**. 1. **Why MECP2 is correct:** The *MECP2* gene encodes a protein essential for normal brain development and function. It acts as a transcriptional repressor, binding to methylated DNA to "silence" specific genes. Mutations lead to the failure of gene silencing, causing global developmental regression, loss of purposeful hand movements (stereotypical hand-wringing), and ataxia. Since it is X-linked dominant, it is usually lethal in males, explaining why it is seen almost exclusively in females. 2. **Why other options are incorrect:** * **P53:** Known as the "Guardian of the Genome," this is a tumor suppressor gene. Mutations are associated with **Li-Fraumeni Syndrome** and various cancers, not neurodevelopmental disorders. * **RB (Retinoblastoma gene):** This is a cell cycle regulator (G1 to S phase). Mutations lead to **Retinoblastoma** and osteosarcoma. * **BRCA (BRCA1/2):** These genes are involved in DNA repair via homologous recombination. Mutations significantly increase the risk of **Breast and Ovarian cancers**. **High-Yield Clinical Pearls for NEET-PG:** * **Clinical Presentation:** A girl who develops normally until 6–18 months, followed by a sudden loss of speech and the pathognomonic **"hand-wringing" tremors**. * **Inheritance:** X-linked Dominant (most cases are *de novo* mutations). * **Pathology:** Brain biopsy typically shows decreased dendritic branching rather than neuronal degeneration.

Question 1

Which gene is involved in Rett syndrome?

Accepted Answer

MECP2

Answer

P53

Answer

RB

Answer

BRCA

Question 2

Which of the following statements is FALSE regarding Fibrinoid necrosis?

Accepted Answer

It is a Type II hypersensitivity reaction.

Answer

It is due to immune complex deposition.

Answer

It gives an eosinophilic appearance.

Answer

It is seen in malignant hypertension.

Question 3

Which type of RNA is primarily involved in gene silencing?

Accepted Answer

miRNA

Answer

rRNA

Answer

tRNA

Answer

None of the above

Question 4

The Human Leukocyte Antigen (HLA) complex in humans is located on which chromosome?

Accepted Answer

Chromosome 6

Answer

Chromosome 5

Answer

Chromosome 7

Answer

Chromosome 8

Question 5

What is the most common primary source of brain metastasis?

Accepted Answer

Lung carcinoma

Answer

Breast carcinoma

Answer

Gastric carcinoma

Answer

Colo-rectal carcinoma

Question 6

What is the confirmatory test for the diagnosis of Amyloidosis?

Accepted Answer

Rectal biopsy

Answer

Diagnostic peritoneal lavage

Answer

Tongue biopsy

Answer

Whole body CT scan

Question 7

Which CD marker is characteristic of angiosarcoma?

Accepted Answer

CD 31

Answer

CD 10

Answer

CD 19

Answer

CD 25

Question 8

Irreversible cell injury is primarily caused by which of the following?

Accepted Answer

Membrane damage

Answer

Bleb formation

Answer

Loss of microvilli

Answer

Detachment of ribosomes

Question 9

Ormond's disease is characterized by which of the following conditions?

Accepted Answer

Idiopathic retroperitoneal fibrosis

Answer

Retractile testis

Answer

Idiopathic retroperitoneal lymphadenopathy

Answer

Idiopathic mediastinitis

Question 10

When a chromosome breaks from one chromosome and joins another chromosome, what is it called?

Accepted Answer

Translocation

Answer

Isochromosome

Answer

Ring chromosome

Answer

Inversion

General Pathology — MCQs

General Pathology — MCQs

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