An Investigation of the Correlation Between the CNTNAP2 rs7794745 gene Polymorphism and Autism in Children from the Middle Euphrates Area of Iraq

Authors

  • Safaa Reza Mahdi AL-Safar Department of Clinical Laboratory Sciences, Faculty of Pharmacy, University of Kufa, Najaf, Iraq. 52001 & Najaf Health Directorate, AL-Abaseya Health Centre, Najaf, Iraq
  • Haydar F. S. AL-Zubaidy Department of Clinical Laboratory Sciences, Faculty of Pharmacy, University of Kufa, Najaf, Iraq. 52001
  • Roaa Hameed Alwaidh Department of pathology and forensic medicine, Faculty of Medicine, University of Kufa, Najaf, Iraq

DOI:

https://doi.org/10.62472/kjps.v15.i24.1-10

Keywords:

ASD, Autism, Spectrum Disorder, CNTNAP2, rs7794745, Gene Polymorphism, PCR-RFLP

Abstract

Background: Autism is an incurable condition that may be attributed to several factors, such as genetic predisposition and environmental influences. Multiple studies have discovered that a substantial number of genes linked to autism serve as constituents of signaling pathways that regulate the plasticity of synapses and development, hence exerting a notable impact on the origins of the illness. CNTNAP2 is increased during the initial phases of neural tube development. Given the increasing worldwide occurrence of autism, there is a growing demand for effective teaching methods and educational programs.

Methods: A case-control study recorded 90 samples, comprising 50 autistic individuals (males and females, mean age 4.5 ± 2 years) and 40 healthy youngsters (5 ± 2 years). PCR and restriction enzymes are used in polymerase chain reaction-restriction to amplify and analyze DNA sequences. PCR-RFLP genotyped CNTNAP2 at rs7794745. Genomic DNA was isolated from peripheral blood cells of healthy children while buccal cells were swapped from patients to obtain and genotype their DNA.

Results: Our results revealed that the low-frequency distribution (p-value > 0.05) of the rs7794745 SNP is statistically non-significant in ASD patients compared to healthy children.

Conclusion: Our case-control study suggests that rs7794745 polymorphism is unrelated to ASD.

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Published

2024-09-12