To Study the Genetic Etiology in Autism Spectrum Disorder (ASD)

Abstract

(Autism Spectrum Disorder) is a multifactorial disorder in which the genetic causes are unknown (Zeidan-Chulia F et al). The study of constitutional genetics in ASD patients is important for clinical assessments of ASD, for better treatment and early prognosis of the disorder. 14 clinically approved ASD patients were enrolled in the study and their karyotyping was performed. The peripheral blood lymphocytes were cultured and GTG banding was done. GTG banding is the foremost step to rule out chromosomal aberrations. The banding pattern of chromosomes is unique to every chromosomes hence any aberration in chromosome can be visible. The images were captured using ocular imaging software version 2.0. The DNA was also isolated from the ASD patients’s blood samples and they were run on the agarose gel electrophoresis. The DNA was quantified by taking absorbance ratio A260/280. This absorbance ratio should be approx. 1.8 - 2, value beyond this could be as a result of RNA contamination and below 1.8 may be due to presence of phenol compounds. In this study all the patients had normal karyotype and there were no chromosomal aberrations. Hence there is no abnormalities at cytogenetic level. Studies at molecular level could be performed to check the abnormalities at DNA level.