Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Research Article, J Genet Disor Genet Rep Vol: 6 Issue: 1

Association Study of IVS8TGmTn Polymorphism and Cystic Fibrosis Disease in a Tunisian Population

Sahli Chaima1*, Hadj Fredj Sondess1, Dabboubi Rym1, Boussetta Khedija2, Maherzi Ahmed3 and Messaoud Taieb1
1Biochemistry Laboratory, Children’s Hospital Bechir Hamza, Research laboratory LR00SP03, Tunis, Tunisia
2Department of Pediatrics, Children’s Hospital Bechir Hamza, Tunis, Tunisia
3Department of Pediatrics, Hospital Mongi Slim, Tunis, Tunisia
Corresponding author : Chaima Sahli
Biochemistry Laboratory, Children’s Hospital Bechir Hamza, Research laboratory LR00SP03Bab Saadoun Square, Tunis, Tunisia
+ 216 53916943
Fax: + 216 71151626
[email protected]
Received: September 19, 2016 Accepted: December 31, 2017 Published: January 03, 2017
Citation: Chaima S, Sondess HF, Rym D, Khedija B, Ahmed M, et al. (2017) Association Study of IVS8TGmTn Polymorphism and Cystic Fibrosis Disease in a Tunisian Population. J Genet Disor Genet Rep 6:1. doi: 10.4172/2327-5790.1000147


Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians, caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The analysis of some extra and intragenic markers within or closely linked to CFTR gene  is  useful  as  a  molecular  method  in  clinical  linkage  analysis.  Indeed, knowing that the molecular basis of CF is highly heterogeneous in our population is explained in the present study. The goal of the study was to examine the IVS8 TGmTn genotypes in a Tunisian sample of patients with CF disease and normal controls, and to compare the results with the findings from the literature.

Methods: We conducted a case–control study in a sample composed of 80 CF patients and 90 control subjects to investigate the possible effect of the polymorphism. The study of the IVS8 TGmTn polymorphism was performed using sequencing analysis.

Results: Our data revealed an association between the IVS8 TGmTn polymorphism and CF risk. There was a significant difference in the poly-T; TG repeats allele or genotype frequencies between cases and controls. Also, statistical analysis shows no association between F508del mutation and T5 variant. Furthermore, new TG9 repeat was reported in CF patients.

Conclusion: This study provides additional evidence that TGmTn poly tract has important role in the development of CF. Further investigation, which genetic and functional studies of polymorphisms in genetic diseases will become of major interest in the future.



Keywords: Cystic fibrosis; IVS8 TGmTn polymorphism; CFTR gene; F508del mutation; Tunisian population

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