Contributions to the research in Molecular Anthropology
After an initial foray in to the genomic studies, a few years ago, Anthropological Survey of India has made some seminal contributions in peer reviewed international journals. The contributions dealt with the migrations, peopling of India, updating the phylogeny of the major Haplogroup M from its dataset, identifying a novel Single Nucleotide Polymorphism (SNP) in autoimmunity (Gene Bank of the Human genome Database Accession number NCBI_rs111221466), etc. The DNA laboratories and their state-of the art infrastructure, presently available in the An.S.I. is also being utilized by other researchers through collaborative research programmes resulting important contributions to the Science at large, besides serving as the training ground for the budding researchers. The studies are ongoing and would come out with many more contributions in the coming years.
DNA Polymorphism of the Contemporary Indian Population
On the basis of 720 complete mtDNA sequences, the Anthropological Survey of India identified 12 new maternal lineages (Haplogroups - M53 to M64) from 26 tribal populations. The sequence results submitted in the Public Database (Gene Bank) bearing access Nos: FJ383174-FJ383814; FJ380210-FJ380216; EU443443-EU443514.
DNA Polymorphism and Disease Genes
We identified one one novel mutation at codon 25 (CAG>CAT; Gln25His) in exon 1 of K-ras gene which is showing a significant association with gallbladder cancer among the population of Eastern India. (Genetic Testing and Molecular Biology, 2011).
Identified one new Single Nucleotide Polymorphism (SNP) of HLA-DPB1 gene CGA> TGA or Arg to Stop codon in HLA gene complex associated with Type I Diabetes Mellitus in the population of eastern India. This new SNP has been submitted to the NCBI GenBank in March 2010 and assigned the SNP Number rs-111221466 (Genetika, 2011, Vol. 43, No. 1, 205-208).
First time the Survey identified 39 base pair deletions on Chromosome 11 (11q13.4) as a genetic marker for the Handigodu Syndrome (Spondyloepi metaphyseal Dysplasia) causing dwarfism among the Chalawadi and Chennangi Populations of from Shimoga district, Karnataka.
More than 8000 Genetic cards depicting the status of Beta-Thalassaemia gene were distributed to the participants to prevent Thalassaemic Child from the high risk zone of rural Southern Bengal.
Some contributions in terms of published research papers in journals :