تشخيص مولكولي پيش از تولد سيستيك فيبروزيس در يك خانواده از جنوب غربي ايران با يك فرزند مبتلا

Prenatal molecular diagnosis of cystic fibrosis in a family from south west of Iran with an affected child

Objective: Cystic fibrosis (CF) is an inheritance disease with autosomal recessive pattern that affects many organs. The disease is caused by disruption of transmembrane chlorine channel. Our aim in this study was to parentally diagnose the presence of cystic fibrosis using molecular method in a family with carrier parents and a previously affected brother. Subjects and Methods: DNA from blood and amnion fluid was extracted by routine methods. Restriction Fragment Length Polymorphism (RFLP) was performed to detect the most common mutation in CF gene. Results: Molecular analysis revealed that both parents were heterozygous for Δ508F and the previous affected child was homozygous for the mutation. However, the fetus was heterozygous and therefore was not affected. Conclusion: Because the parents were not relatives and carried the same mutation, it seems that Δ508F mutation has a high frequency among Khuzestan population. Screening for mutations in CF gene in Khuzestan population is recommended.