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Question

Which of the following conditions are transmitted as a recessive, sex-linked trait?
I. Retinitis pigmentosa
II. Colour blindness
III. Cystic fibrosis
IV. Duchenne muscular dystrophy
Select the correct answer using the code given below:

The correct answer is
I, II and IV

Understanding Recessive Sex-Linked Traits

This question asks us to identify which of the listed conditions are transmitted as recessive, sex-linked traits. A recessive, sex-linked trait is a characteristic caused by a gene located on the X chromosome, which requires two copies of the mutated allele (one on each X chromosome) to be expressed in females, and only one copy in males (since they possess only one X chromosome).

Analysis of Conditions

Let's examine each condition mentioned:

  • I. Retinitis pigmentosa: While Retinitis pigmentosa encompasses various genetic forms, several types are known to be inherited in an X-linked recessive pattern. This means they fit the criteria of being recessive and sex-linked.
  • II. Colour blindness: The most common forms of colour blindness, particularly red-green colour blindness, are classic examples of X-linked recessive traits.
  • III. Cystic fibrosis: Cystic fibrosis is a well-known genetic disorder, but it is inherited in an autosomal recessive manner. This means the gene responsible is located on an autosome (a non-sex chromosome), not the X chromosome. Therefore, it is not a sex-linked trait.
  • IV. Duchenne muscular dystrophy: Duchenne muscular dystrophy (DMD) is another prominent example of an X-linked recessive disorder. It primarily affects males.

Identifying Correct Combinations

Based on the analysis:

  • Retinitis pigmentosa (some forms) is X-linked recessive.
  • Colour blindness (common forms) is X-linked recessive.
  • Cystic fibrosis is autosomal recessive.
  • Duchenne muscular dystrophy is X-linked recessive.

Therefore, the conditions that are transmitted as recessive, sex-linked traits from the given list are Retinitis pigmentosa (I), Colour blindness (II), and Duchenne muscular dystrophy (IV).

Conclusion

The correct combination representing recessive, sex-linked traits is I, II, and IV.

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Important Questions from Miscellaneous

  1. A 35 year old male presents with increased urine output. On evaluation, his urinary output was around 4L/day; urinary osmolality was 200 mosmol/L. Which of the following are various differential diagnosis ?

    I. Psychogenic polydipsia

    II. Solute diuresis

    III. Central diabetes insipidus

    IV. Nephrogenic diabetes insipidus

    Select the correct answer using the
    code given below:

  2. Which one of the following causes low-volume erythrocytosis?

  3. Under which one of the following conditions, the HPA axis suppression is likely to result in crisis due to adrenal insufficiency following withdrawal of glucocorticoids?

  4. A 36 year old man presents with decreased apetite, mouth soreness, diarrhoea and irritability. On examination he has a bright red tongue with a pigmented scaly rash around the neck. Which one of the following food items in his diet has a bearing on his disease?

  5. Koebner phenomenon is seen in which one of the following conditions?

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