UPSC MainsZOOLOGY-PAPER-II201120 Marks
Q21.

Carrier woman × Normal man

How to Approach

This question requires a detailed understanding of X-linked recessive inheritance. The approach should involve explaining the genetic basis of the condition, constructing a Punnett square to demonstrate the possible genotypes of offspring, and then outlining the probabilities of different phenotypes (carrier daughter, affected son, etc.). The answer should be structured logically, starting with the basics of X-linked inheritance, followed by the Punnett square analysis, and concluding with a summary of the probabilities. Focus on clarity and precision in explaining the genetic concepts.

Model Answer

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Introduction

X-linked recessive inheritance is a mode of inheritance in which a gene causing a disease or trait is located on the X chromosome. Since males (XY) have only one X chromosome, a single recessive allele on that chromosome will manifest the trait. Females (XX) have two X chromosomes, meaning they need two copies of the recessive allele to express the trait. A 'carrier' woman possesses one normal allele and one affected allele on her X chromosomes. Understanding the probabilities of offspring inheriting these alleles is crucial in genetic counseling and predicting the risk of disease transmission. This question asks us to analyze the inheritance pattern when a carrier woman mates with a normal man.

Understanding X-linked Recessive Inheritance

X-linked recessive traits are more commonly observed in males than females due to their hemizygous nature for X-linked genes. Females can be carriers without exhibiting the trait, while males either express the trait or remain unaffected. The key to understanding inheritance lies in the gametes (sperm and egg) produced by the parents.

Genotypes of the Parents

Let 'XA' represent the normal allele and 'Xa' represent the recessive allele causing the trait. The carrier woman has the genotype XAXa. The normal man has the genotype XAY, as males only have one X chromosome.

Punnett Square Analysis

To determine the possible genotypes and phenotypes of their offspring, we can construct a Punnett square:

XA Y
XA XAXA XAY
Xa XAXa XaY

Possible Genotypes and Phenotypes of Offspring

  • XAXA: Normal daughter (25% probability)
  • XAXa: Carrier daughter (25% probability)
  • XAY: Normal son (25% probability)
  • XaY: Affected son (25% probability)

Detailed Explanation of Outcomes

From the Punnett square, we can see that:

  • There is a 25% chance of a daughter being normal (XAXA).
  • There is a 25% chance of a daughter being a carrier (XAXa). She will not express the trait but can pass it on to her children.
  • There is a 25% chance of a son being normal (XAY).
  • There is a 25% chance of a son being affected (XaY). Since males have only one X chromosome, the presence of the recessive allele on that chromosome will result in the expression of the trait.

Implications for Genetic Counseling

This analysis is crucial for genetic counseling. A couple with this scenario has a 25% risk of having an affected son and a 25% risk of having a carrier daughter. Understanding these probabilities allows the couple to make informed decisions about family planning and potential interventions.

Factors Influencing Expression

While the Punnett square provides probabilities, it's important to note that gene expression can be influenced by other factors, including environmental factors and other genes. However, the basic principles of X-linked recessive inheritance remain consistent.

Conclusion

In conclusion, when a carrier woman (X<sup>A</sup>X<sup>a</sup>) mates with a normal man (X<sup>A</sup>Y), there is a 25% probability of having a normal daughter, a 25% probability of having a carrier daughter, a 25% probability of having a normal son, and a 25% probability of having an affected son. This understanding of X-linked recessive inheritance is fundamental to genetic counseling and predicting the risk of disease transmission within families. Further genetic testing can confirm carrier status and provide more accurate risk assessments.

Answer Length

This is a comprehensive model answer for learning purposes and may exceed the word limit. In the exam, always adhere to the prescribed word count.

Additional Resources

Key Definitions

Hemizygous
Having only one copy of a gene, as occurs in males for genes located on the X chromosome.
Allele
One of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.

Key Statistics

Approximately 8% of males worldwide are colorblind, a common X-linked recessive disorder.

Source: National Eye Institute (as of 2023 knowledge cutoff)

Approximately 1 in 500 males are born with Duchenne Muscular Dystrophy.

Source: Muscular Dystrophy Association (as of 2023 knowledge cutoff)

Examples

Hemophilia

Hemophilia, a bleeding disorder, is a classic example of an X-linked recessive trait. Historically, it affected royal families in Europe due to the inheritance of the affected allele through carrier queens.

Frequently Asked Questions

What if the father was also a carrier?

If the father was a carrier (X<sup>A</sup>X<sup>a</sup>), the probabilities would change significantly, with a higher chance of affected daughters and carrier sons.

Topics Covered

BiologyGeneticsInheritanceGenetic DisordersSex-Linked Traits