Background and aims: Glutaricaciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH). Direct sequencing is usually used to detect point mutations and other sequence variations in the gene, which is expensive and time-consuming. Alternatively, linkage analysis of polymorphic markers such as single nucleotide polymorphism (SNP) has been used in heterozygous carrier detection and prenatal diagnosis of the disease in families with an affected individual. A large number of SNP markers have been introduced in the GCDH gene region in the electronic databases. In the present study, the characteristics of rs 9384 as an informative marker located in GCDH gene region were investigated.

Methods: Genotyping was carried out by ARMS PCR technique in 100 unrelated healthy individuals using newly designed primers. Estimation of allelic frequency and heterozygosity rate was performed using GenePop website and the presence of Hardy Weinberg Equilibrium (HWE) as well as the amount of polymorphism information content (PIC) was computed by Power Marker software for the marker.

Results: The results indicated 0.34% minor allele frequency (MAF), 0.53% heterozygosity rate and 0.3498% PIC for rs9384 marker in the population. Moreover, analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in this population.

Conclusion: In total, according to the results of this study, rs9384can be considered as an informative SNP marker for molecular diagnosis of GCDH related GA1 by indirect genetic analysis in the Isfahan population as a representative sample of the Iranian population.