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Information Journal Paper

Title

Association of two common single nucleotide polymorphisms of Reelin gene, Intron 59 (C/T) and exon 22 (C/G), with autism spectrum disorder in a Population Sample of Children of Iranian-Azeri

Pages

 Start Page 117 | End Page 128

Abstract

Autism spectrum disorder (ASD) is a complex childhood neuropsychiatric disorder that is characterized by deficits in verbal and non-verbal communication, reciprocal social interactions, stereotypic behaviors, interests, and activities. During emberyonic brain development, Reelin provides signal for proper migration of newly generated postmitotic neurons. Since the Reelin plays a crucial role in these migratory processes. Therefore, Reelin gene is considered as a potential candidate gene for Autism. In this study, we aimed to investigate the probable association of this Polymorphisms with Autism spectrum disorder in Iranian-Azeri population. In this Case-control study, we recruited 74 patients with Autism spectrum disorder and 88 healthy controls. Genomic DNA isolated from blood leukocytes by the proteinase K and salting out method. SNP genotyping was carried out by polymerase chain reaction restriction fragment length Polymorphism (PCR-RFLP) technique. The collected data were analyzed through javastat online statistics software, using Chi-square (v2), with a significance level of 0. 05. The allele and genotype frequencies did not show significant difference between cases and controls (p>0. 05). Therefore, this SNPs could not be used as a useful molecular biomarker to predict genetic susceptibility for Autism spectrum disorder in Iranian-Azeri patients.

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