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PhD thesis Viva

A doctoral thesis was discussed  at the Faculty of Medicine /University of Kufa, Zainab Abdul-Ridha Al-Ali, the student from department of pathology tagged her thesis as(Evaluation of molecular and chromosomal instability in the pathogenesis of autism spectrum disorder in Iraq). The study aims firstly to find the chromosomal abnormalities in ASD, secondly the oxytocin plasma level in autistic patient and control, thirdly SNPs polymorphism of GABAG3, RELN and OXT receptor gene by allele specific PCR, forth the FOXL1 gene expression in ASD and control by real time PCR and lastly FOXP2 gene expression by detection of its target gene ( PHOXB2 and NURR1 gene) by real time PCR. The chromosomal study revealed that only one case showed chromosomal abnormalities( 47,XXy Klinefelters syndrome with normal   parent chromosomal analysis).  The ELISA measurements of serum OXT showed the   serum OXT levels in the patients with ASD significantly higher , the measurement of serum OXT levels and OXTR genetic alterations provide a simple dual – biomarker test to gauge social functioning in the ASD patient for diagnostic, monitoring and support purposes. Up-regulation of FOXL1 in autistic patients than control 1 , estimation of GIT symptoms with severity of disease showed significant difference with severity down regulation of PHOX2B and NURR expression, so the FOXP2 overexpressed as it target genes.

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