Polymorphisms of (rs7794745) in theCNTNAP2 Gene as Biomarker of Autistic Patients in Thi-Qarprovince/ Iraq
Aim: The role of SNP polymorphism in the CNTNAPA2gene as a possible risk factor for autism is still a topic of much
investigation, and research on genes related to autism susceptibility has been rather challenging. Present study aimed to
investigate the possible association of CNTNAPA2polymorphism and autism in a Thi-Qar populations.
Methodology: Autistic children were diagnosed by child psychiatrists according to DSM-IV and DSM-V criteria. 95
children diagnosed as autistic children and 50 age and sex-matched children as control were tested for CNTNAPA2
polymorphism. This polymorphism was studied by using polymerase chain reaction-restriction fragment length
polymorphism (PCR-RFLP) methods.
Results: After, DNA was extracted from peripheral blood cells, analyzed the SNPs (rs7794745) in the CNTNAP2 gene of 95
ASD patients and 50 non-autistic individuals by polymerase chain reaction-restriction fragment length polymorphism(PCRRFLP).
The results of digestion by restriction enzyme (MICUI) for patients and control samples, showed the frequencies of
the AA, AT and TT genotypes of rs7794745 were 25.58%, 60.46% and 13.96% in patients and 38.90%, 44.44% and 16.66%
in controls, respectively. Thus, the significant association was observed in genotypes distributions of rs7794745 CNTNAP2
gene polymorphism between autism patients and controls (P≤0.05). The frequencies of A and T allele patients were 55.81%,
44.19% and the control group were 61.11% and 38.89% respectively (P≤0.05). There were no significant differences in
allele frequencies between the two groups. This study showed that there is a significant relationship between rs7794745
CNTNAP2 gene polymorphism and autism in Thi-Qarpopulation.
Conclude: This study conclude that CNTNAPA2polymorphisms such as other SNP may be studied to show their possible
role in autism.