CFTR haplotypes in northern Iranian population

Area of Science:

• Medical Genetics
• Molecular Diagnostics
• Population Genetics

Background:

• Cystic fibrosis (CF) is an autosomal recessive disorder caused by CFTR mutations, presenting genetic heterogeneity in Iran.
• Direct mutation identification for CF diagnosis is challenging in the Iranian population.
• Polymorphic intragenic markers can aid in gene tracking for prenatal diagnosis and identifying mutation associations.

Purpose of the Study:

• To investigate the allelic distribution of specific genetic markers in Iranian CF patients and normal individuals.
• To assess the utility of these markers for carrier detection and prenatal diagnosis of CF in Iran.

Main Methods:

• Analysis of F508del mutation and polymorphisms (c.1210-12T(5_9), c.1408A>G, c.744-33GATT(6_8)) in 60 CF patients and 53 healthy controls from North Iran.
• Gene tracking and haplotype analysis.

Main Results:

• The c.1210-12T[7] allele was most prevalent in both normal individuals (87.7%) and non-F508del CF patients (86.7%).
• Allele frequencies for c.1408A>G were nearly equal in non-F508del CF patients and normal individuals.
• The c.744-33GATT(6_8) 7-repeat allele was most common in normal (80.2%) and non-F508del CF patients (82.1%).
• The [c.1408A; c.1210-12T[9]; c.744-33GATT[6]] haplotype was exclusively linked to mutant alleles, including F508del.

Conclusions:

• The studied polymorphisms (c.1408A>G, c.1210-12T(5_9), c.744-33GATT(6_8)) show potential for carrier detection in Iranian families with a history of CF.
• These genetic markers can contribute to more effective prenatal diagnosis strategies for cystic fibrosis in the Iranian population.