The relative frequency, pattern of five common CFTR mutation and importance of genetic counseling in patients with clinical suspicion of cystic fibrosis: A Metropolis experience

Dr. Shailesh S Pande; Pratiksha Chheda; Shweta Limaye; Dollar Goradia; Dr. Sushant Vinarkar

Volume : VIII, Issue : V, May - 2019

The relative frequency, pattern of five common CFTR mutation and importance of genetic counseling in patients with clinical suspicion of cystic fibrosis: A Metropolis experience

Dr. Shailesh S Pande, Pratiksha Chheda, Shweta Limaye, Dollar Goradia, Dr. Sushant Vinarkar

Abstract :

Cystic fiosis is one of the most common autosomal recessive disorders and it is now observed to be far more common than was thought in India. As the number of genetic testing centres is increasing and thus the availability of testing facility which has shown that presence of CF cases is significant in Indian population. It has been reported that CFTR gene analysis in Indian population shows most common mutation in the form the delta F508. Mutations in CFTR gene additionally are associated with male infertility in cases with obstructive azoospermia. IVS8–T5 and delta F508 are most commonly seen mutations in individuals having obstructive azoospermia secondary to congenital absence of vas deference. Mutation studies of common five mutations can help to detect the condition in majority of the patient with clinical suspicion of CF. Appropriate genetic counseling can help the patient and family for estimation of risk to the individual and family members and opens the options of reproduction