Genetic Disorders

To match Column I with Column II, let's analyze each pair:

Pituitary gland: This gland is often referred to as the "master gland" because it regulates other endocrine glands. Disorders associated with it include:​

• Diabetes insipidus: A condition characterized by excessive thirst and urination, resulting from insufficient antidiuretic hormone (ADH) production.​

Thyroid gland: This gland produces hormones that regulate metabolism. Disorders include:​

• Grave's disease: An autoimmune disorder leading to hyperthyroidism, causing symptoms like weight loss and rapid heartbeat.​

Adrenal gland: These glands produce hormones like cortisol and adrenaline. Disorders include.

• Addison's disease: A disorder resulting from insufficient production of adrenal hormones, leading to fatigue and muscle weakness.​

Pancreas: This organ produces insulin and glucagon to regulate blood sugar. Disorders include:​

• Diabetes mellitus: A condition characterized by high blood sugar levels due to insulin resistance or deficiency.​

Correct Matching :

a. Pituitary gland → iii. Diabetes insipidus

b. Thyroid gland → i. Grave's disease

c. Adrenal gland → iv. Addison's disease

d. Pancreas → ii. Diabetes mellitus

The correct answer is (D) : i-s, ii-r, iii-p, iv-q.

Yes, Adenosine Deaminase (ADA) deficiency can be treated by bone marrow transplantation (Option 2).

However, other possible treatments include:

Enzyme Replacement Therapy (ERT): Injecting ADA enzyme into the patient.

Gene Therapy: Introducing a functional ADA gene into the patient's cells using a viral vector.

Bone marrow transplantation is a potential permanent cure if a suitable donor is available.

Haemophilia is an X-linked recessive disorder. A female carrier (with one normal X chromosome and one X chromosome carrying the defective gene) has a 50% chance of transmitting the defective X chromosome to her sons. Since sons inherit the Y chromosome from their fathers, they can only inherit the X chromosome from their mother. Therefore, a female carrier can pass on the disease to her sons.

The correct answer is (A) : Female carrier for haemophilia may transmit the disease to sons.

The incorrect statement is: Individuals affected by Down's Syndrome will have congenital heart defect and are more intelligent.

(A) Sex-linked inheritance - Correct: Carrier females (X^HX^h) can transmit recessive traits (e.g., hemophilia) to male offspring (X^hY).

(B) Phenylpyruvic acid accumulation - Correct: This is characteristic of phenylketonuria (PKU), causing intellectual disability if untreated.

(C) Down's Syndrome description - Incorrect: While congenital heart defects occur in ~50% cases, individuals typically have mild to moderate intellectual disability (not increased intelligence).

(D) Turner's Syndrome - Correct: 45,X karyotype (missing one X chromosome) causes this condition.

The incorrect statement is (C), as it contains a factual error regarding cognitive abilities in Down's Syndrome (Trisomy 21).