Contributed by: Dr. Ashwin Dalal  
  Email: ashwindalal@gmail.com  
  The sequencing track below shows a part of sequence from beta globin gene in a carrier for Thalassemia. The normal sequence of beta globin gene is given. Identify the mutation.  
 

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Answer to PhotoQuiz 33
Hereditary Angioedema (OMIM # 106100)
Hereditary angioedema is an autosomal dominant disorder characterized by episodic localized subcutaneous edema and submucosal edema involving mainly the upper respiratory and gastrointestinal tracts. The classic form of the disorder is caused by a mutation in the C1NH gene (OMIM *606860), which codes for the complement component 1 inhibitor. There are two forms of the classic disorder, both of which are clinically indistinguishable, but are differentiated by the serum levels of C1NH. In type I there is a deficiency of the serum levels of C1NH (less than 35% of normal) and in type II, the serum C1NH levels are normal or elevated, but the protein is nonfunctional. Another type of hereditary angioedema, HAE type III (OMIM # 610618), is caused by mutation in the F12 gene (OMIM *610619) which codes for coagulation factor XII..
 
Correct responses were given by:
1. G Aruna, Vellore
2. Ravindra Chabra, Indore
3. Diksha Shirodkar, Goa
4. Ashish Gupta, New Delhi
5. Poonam Singh Gambhir, Lucknow
6. Prashant Kumar Verma, Agra
7. Mohandas Nair, Calicut
8. Jagadish Bhat, Goa
9. J L Kulkarni, Mumbai
10. Bharti Singh, Lucknow
11. Manpreet Kaur, Gurgaon
12. Jai Prakash Soni, Jodhpur
13. Ravi Goyal, Kota (Rajasthan)
14. Vikas Katewa, Jodhpur
15. Beena Suresh, Chennai