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Autism is a complex neurodevelopmental disorder and the prevalence was estimated to be 4 in every 10,000 children. Autism cannot be traced to a Mendelian mutation and thought to be a complex multifactorial disorder . 5-HTT gene is responsible for the reuptake of serotonin into the presynaptic cell after it has been released into the synaptic cleft to signal the adjacent neuron. 5-HTTLPR is a degenerate repeat polymorphic region in 5-HTT gene, located on chromosome 17 and has been implicated in some human mental disorders. In the present study the researchers screened for the association of serotonin transporter gene variants in children’ s with autism. The DNA was isolated using salting out method and PCR was performed for the amplification of the gene of interest and the products were run on 2% agarose gel and the band pattern were analyzed. The study analysis, revealed no evidence for an association of 5-HTT gene variants and autism. Address for correspondence: Dr. R. Selvi Lecturer Department of Human Genetics College of Biomedical Sciences, Technology and Research Sri Ramachandra University , Porur, Chennai-16, Tamil Nadu, India Telephone: 044-27465748 Ext-237 Mobile: 9840099486 E-mail: rselvi_80@yahoo.com INTRODUCTION Autism is a complex neurodevelopmental disorder impacting development in the areas of social interaction, communication skills and behaviour and they do not follow the typical patterns of development and autistics have been described as being in their “own world” (Abrahams and Geschwind 2008). Prevalence was estimated to be four in every 10,000 children, and the ratio of af fected males to females is 3: 1(APA 1994). It is characterized by marked social deficits, deviant language, dif ficulties in verbal and nonverbal communication, social awkwardness, social deficits and unusual responses to the environment, such as a restricted range of stereotyped repetitive behaviors, cir cumscribed interests and sensory issues usually occurring within the first 3 years of life and associated with subtle abnormalities in specific structures or functions in the brain (Christine et al. 2008). It is strongly genetic, heritable but the specific causes of autism are unknown; although many genetic and environmental causes of autism have been proposed, its theory of causation is still incomplete. Teratogens are also related to the risk of autism in rare cases (Piven et al. 1997). Serotonin is an important neurotransmitter , one of the short-range signaling molecules with which one neuron communicates with another and it is involved in inducing sleep, sensory perception, temperature regulation and control of mood. The serotonin transport protein (5HTT-5-hydroxytrptamine transporter) also called as SLC6A4 is a monoamine transporter protein with 12 transmembrane domains and is involved in the transport of serotonin in the serotonergic neurons of central nervous system. It has 14 exons and it is located on chromosome 17 (17q1 1.2). Some individuals with autism were found to have abnormal levels of serotonin in their blood stream platelets (Cuccaro et al. 1993). 2 major polymorphisms in 5HTT are a 44bp insertion/deletion in the 5HTTLPR promoter region and VNTR in the intron 2 of 5HTT. 5-HTTLPR is a degenerate repeat polymorphic region in 5-HTT , and it has been implicated in some human mental disorders. The alleles of the 5-HTT gene are called “short” and “long,” the terms “short” and “long” actually refer to two diferent lengths of the sequences in the gene’ s regulatory region. The polymor phism causes decreased gene expression and fewer serotonin transporters in the membrane of the cell. Thus, rate of reuptake of serotonin is © Kamla-Raj 2012 Int J Hum Genet, 12(2): 119-123 (2012)

Analysis of Serotonin Transporter Gene (5HTT) Variants Association in Children with Autistic Disorder