Association between the rs8028440 polymorphism of CYFIP 1 gene in autism patients

Authors

  • Hossein Ghahramani Almanghadim Department of Biological Science, Ahar Branch, Islamic Azad University, Ahar, IR Iran
  • Marjan Assefi University of North Carolina at Greensboro, USA
  • Shahab Masoumi Department of Administrative Science, Vancouver Campus, Fairleigh Dickinson University (FDU), Vancouver, British Columbia, Canada, University of Berkeley, USA
  • Parisa Vakili Department of Administrative Science, Vancouver Campus, Fairleigh Dickinson University (FDU), Vancouver, British Columbia, Canada, University of Berkeley, USA
  • Zinat Shams Biochemistry, Department of Biological Science, Kharazmi University Tehran, Iran
  • Atefeh Moradkhani Department of Biology, Faculty of Science, Zanjan Branch, Islamic Azad University, Iran
  • Mahmoud Shekari Khaniani Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
  • Sima Mansouri Derakhshan Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran

Abstract

Demonstrated no association between ASD and rs8028440 polymorphism of the CYFIP1 gene, which
needs further studies in a larger population of ASD subjects to find the contribution of rs8028440
polymorphism in CYFIP1 gene with ASD in Iranian patients.

Introduction: Given the importance of the Cytoplasmic FMR1 Interacting Protein 1 (CYFIP1 gene) in
relation to neurodevelopmental abnormalities such as autism spectrum disorder (ASD), recognizing the
interaction between single nucleotide polymorphisms (SNPs) of this gene in autism cases is important.
In this study, we evaluated the probable association of rs8028440 polymorphism of the CYFIP1 gene
with ASD disorder in Iranian subjects.

Methods and patients: The CYFIP1 gene were amplified with specific primers and the PCR products
were digested with RsaI restriction enzyme to obtain the rs8028440 polymorphism in 100 ASD patients
and 100 healthy control cases. Finally, the samples were genotyped using direct sequencing to identify
CC, CT, and TT genotypes.

Results: The Hardy-Weinberg equilibrium showed no significant deviation in the subjected population.
According to our results, the frequency of the C allele was higher in ASD groups than in the control
group. The full length of PCR was 662 bp and through RFLP‐PCR, normal genotype (C/C), heterozygote
genotype (T/C), and homozygous genotype (T/T) was detected. Ten PCR products were sequenced and
the corresponded alleles A/T and Y (C or T) were determined. It was revealed no significant difference
was found between ASD subjects and controls with respect to the frequency of the rs8028440 gene
allele.

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Published

2021-07-28

Issue

Vol. 1 No. 3

Section

Articles