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Bhaskar LVKS et al. – The results demonstrate the variability of the DAT1 40–bp VNTR polymorphism in Indian populations and revealed a high similarity with East Asian populations.

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Vadlamudi Raghavendra Rao, 09/30/09

Dopamine is one of the principal neurotransmitters in the central nervous system (CNC), and its neuronal pathways are involved in several key functions such as behavior, control of movement, endocrine regulation, immune response and cardiovascular function. The dopamine transporter is a type of protein that actively transports the neurotransmitter dopamine within nerve synapses. Malfunctions of the dopamine transporter may contribute several psychological disorders, including clinical depression, alcoholism, and bipolar disorder. The gene encoding DAT1 (gene symbol SLC6A3) consists of 15 exons spanning 60 kb on chromosome 5p15.32 [MIM*126455]. The polymorphism is determined by 3 to 11 copies of 40 bp repeats in the 3’UTR of the gene. In the present study a total of 471 healthy unrelated individuals from 12 Indian populations analysed for this polymorphism. Overall, 4 alleles of the DAT1 40-bp VNTR, ranging from 7 to 11 repeats were detected. The allele spectra in Indian populations are unimodel with a peak at alleles 9-10. These patterns coincide with the East Asian population allele frequency profiles for this locus. The 10- repeat allele was most frequent in all of the populations examined. The distribution of these DAT1 allele frequencies among the ethnic groups was found to be highly homogeneous and statistically non-significant for both geographical region and linguistic groups of the present study. The present studied populations show statistically significant differences with African populations for alleles 3, 7, 9, 10 and 12, but allele 9 has not shown any significant difference only in East Asian and Oceana populations. The most frequent ten-repeat allele does not deviate significantly from Europe, East Asia and Oceana populations. Our study adds to the knowledge on the distribution of DAT1 gene VNTR polymorphism among the Indian populations.

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