Sex linked diseases and lyonization in females

  • Thread starter Thread starter Prashasti
  • Start date Start date
Click For Summary
SUMMARY

The discussion centers on X-linked dominant diseases, specifically addressing the implications of lyonization in females. A female with the allele for an X-linked dominant disease (XDX) may not necessarily express the disease due to random X-inactivation, where either the paternal or maternal X chromosome can be inactivated. This process results in approximately 50% of cells expressing the dominant allele, which can lead to the manifestation of the disorder. The conversation references the concept of Barr Body formation and highlights the unpredictability of disease expression in females.

PREREQUISITES
  • Understanding of X-linked inheritance patterns
  • Knowledge of lyonization and Barr Body formation
  • Familiarity with dominant genetic disorders
  • Basic genetics terminology
NEXT STEPS
  • Research X-linked dominant disorders and their phenotypic expressions
  • Study the mechanisms of X-inactivation and its biological implications
  • Explore genetic counseling techniques for X-linked diseases
  • Investigate the role of cell population dynamics in genetic expression
USEFUL FOR

Geneticists, medical professionals, students studying genetics, and anyone interested in understanding the complexities of X-linked inheritance and its implications in females.

Prashasti
Messages
63
Reaction score
2
Suppose, there's a disease "D", which is an X-linked, dominant disease.
Now, there's a female who possesses the allele for this disease in one of her two X chromosomes. (XDX)

It's easy to say that since the allele for the disease is dominant, she'll suffer from it.

Now, it's a well known fact that in females, one of the X chromosomes gets inactivated ( Barr Body formation or lyonization).

My question is, how can we be sure that she will suffer from the disease? We can never be 100% sure!

What if the X chromosome, which has the allele for the disease, is the one that gets inactivated ? That allele will never be expressed and she'll never suffer from the disease.
 
Biology news on Phys.org
X-inactivation is a random process, so approximately 50% of the cells in a woman's body will have the paternal X inactivated and 50% will have the maternal X inactivated. Unless the number of cells causing the dominant phenotype is very small, there will likely be some population of cells expressing the dominant allele to cause the disorder. Wikipedia lists a few examples of dominant X-linked disorders (https://en.wikipedia.org/wiki/X-linked_dominant_inheritance).
 
  • Like
Likes   Reactions: epenguin, BillTre, jim mcnamara and 1 other person

Similar threads

  • · Replies 16 ·
Replies
16
Views
3K
  • · Replies 1 ·
Replies
1
Views
2K
  • · Replies 1 ·
Replies
1
Views
2K
  • · Replies 3 ·
Replies
3
Views
2K
  • · Replies 12 ·
Replies
12
Views
3K
  • · Replies 1 ·
Replies
1
Views
13K
Replies
4
Views
4K
Replies
3
Views
3K
Replies
6
Views
3K
  • · Replies 2 ·
Replies
2
Views
2K