Volume 7 Supplement 1

Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics

Meeting abstracts

The conference and publication charges for this supplement were funded through the co-sponsorship of the Gujarat State Biotechnology Mission (GSBTM) and Department of Science and Technology (DST), Government of Gujarat, Genzyme and Zydus Cadila. Genzyme and Zydus Cadila were not involved in the selection of abstracts.

International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG). Go to conference site.

Ahmedabad, India23-25 January 2014

Concatenated PDF 7S1

Page 3 of 5

Cytotoxicity assessment of ZnO nanoparticles on human epidermal cells

Authors: Pal Patel, Krupa Kansara, Darshini Shah, NV Srikanth Vallabani, Ritesh K Shukla, Sanjay Singh, Alok Dhawan and Ashutosh Kumar

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P81

Content type: Poster presentation Published on: 21 January 2014
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TiO2 NPs induced hepatic injury in mammals: a mechanistic approach

Authors: Ritesh K Shukla, Ashutosh Kumar, NV Srikanth Vallabani, Sanjay Singh and Alok Dhawan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P82

Content type: Poster presentation Published on: 21 January 2014
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BSA coated gold nanoparticles exhibit size dependent interaction with lung cancer (A549) cells

Authors: Rahul Purohit, NV Srikanth Vallabani, Ritesh K Shukla, Ashutosh Kumar, Alok Dhawan and Sanjay Singh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P83

Content type: Poster presentation Published on: 21 January 2014
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A data mining approach for identifying novel target specific small molecules

Authors: Varun Khanna and Alok Dhawan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P84

Content type: Poster presentation Published on: 21 January 2014
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Next generation sequence analysis of the transcriptional response to neonatal hyperoxia

Authors: Soumyaroop Bhattacharya, Zhongyang Zhou, Min Yee, Ashley Lopez, Valarie Lunger, Bradley Buczynski, Gloria Pryhuber, Thomas Mariani and Michael OReilly

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P85

Content type: Poster presentation Published on: 21 January 2014
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Comparative analysis of human mitochondrial methylome show distinct patterns of epigenetic regulation in mitochondria

Authors: Sourav Ghosh, Shantanu Sengupta and Vinod Scaria

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P86

Content type: Poster presentation Published on: 21 January 2014
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Defining the effects of prematurity on the lymphocyte transcriptome

Authors: Soumyaroop Bhattacharya, Ravi Misra, Heidi Hyuck, Christopher Slaunwhite, Shannon Castiglione, Deanna Maffett, Anne Marie Reynolds, Gloria Pryhuber and Thomas Mariani

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P87

Content type: Poster presentation Published on: 21 January 2014
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Oxidant–antioxidant imbalance in the serum of Myotonic Dystrophy type 1 (DM1) patients correlates with the progression of disease

Authors: Ashok Kumar, Sarita Agarwal, Sunil Pradhan and Shubha Phadke

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P88

Content type: Poster presentation Published on: 21 January 2014
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Mental retardation in younger children

Authors: Grishma Shukla, Swati B Thakur, GT Swamy and MV Rao

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P89

Content type: Poster presentation Published on: 21 January 2014
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Role of miRNA binding site SNPs in candidate genes in a North Indian schizophrenia cohort

Authors: Jibin John, Smita N Deshpande, Vishwajit L Nimgaonkar and BK Thelma

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P91

Content type: Poster presentation Published on: 21 January 2014
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Understanding insulin resistance pathophysiology in PCOS: a genetic approach

Authors: Srabani Mukherjee, Nuzhat Shaikh, Roshan Dadachanji, Nalini Shah and Anushree Patil

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P92

Content type: Poster presentation Published on: 21 January 2014
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Do variations in Insulin-like Factor 3 (INSL3) gene affect PCOS susceptibility?

Authors: Nuzhat Shaikh, Nalini Shah and Srabani Mukherjee

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P93

Content type: Poster presentation Published on: 21 January 2014
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Role of TNF α in the etiopathogenesis of PCOS: a clinical, biochemical and molecular genetic study

Authors: Sujatha Thathapudi, Vijayalakshmi Kodati, Ahuja Yog Raj, Uma Addepally, Anuradha Katragadda and Qurratulain Hasan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P94

Content type: Poster presentation Published on: 21 January 2014
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Assessment of MBL2 gene polymorphism and lipid peroxidation in Chronic Obstructive Pulmonary Disease (COPD)

Authors: Aarti Sharma, Gursatej Gandhi, Jatinder Singh, Sukhdev Singh and Manpreet Kaur

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P95

Content type: Poster presentation Published on: 21 January 2014
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Role of IL-6/JAK/STAT pathway in inducing vascular insulin resistance

Authors: Aswath Balakrishnan, Kapaettu Satyamoorthy and Manjunath B Joshi

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P96

Content type: Poster presentation Published on: 21 January 2014
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In silico docking studies for designing potent anti-diabetic derivatives of swertiamarin with enzyme HMG COA reductase

Authors: Jayshil Bhatt, Hitesh Vaidya, Varun Khanna, Naisargee Patel and Ramesh Goyal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P97

Content type: Poster presentation Published on: 21 January 2014
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Influence of CYP3A5 polymorphism on tacrolimus drug dosing in Indian renal allograft recipients: initial experience

Authors: Mohan Patel, Manoj Gumber, Vivek Kute, Pankaj Shah, Himanushu Patel, Hargovind Trivedi, Aruna Vanikar and Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P98

Content type: Poster presentation Published on: 21 January 2014
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Multi- analytical approach: better predictor of pharmacogenetic based clinical outcomes in breast cancer therapies

Authors: Sonam Tulsyan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P99

Content type: Poster presentation Published on: 21 January 2014
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Impact of KCNJ11, TCF7L2, SLC30A8, IGF2BP2, PPARG, SLC47A1, STK11, HHEX, KCNQ1, CDKAL1, FTO, CYP2C9, ADIPOQ, CAPN10 gene polymorphisms on risk of type 2 diabetes and therapeutic response to sulfonylurea and metformin therapy

Authors: Nagaraja Phani, Padmalatha Rai, Prabha Adhikari, Shivashankara Nagri, Sydney D’Souza, Mundyat Gopinath and Kapaettu Satyamoorthy

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P100

Content type: Poster presentation Published on: 21 January 2014
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Effect of PPAR-γ2 gene Pro12Ala and ADR-β3 gene Trp64AArg polymorphism on glucose homeostasis in Type 2 diabetes subjects from Western India

Authors: Ankna Shah, Frenny Sheth, Avisek Majumder, Bhavik Doshi, Navneet Shah, Premal Thakor, Rama Vaidya and Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P101

Content type: Poster presentation Published on: 21 January 2014
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Alarming findings about genomics of sudden cardiac arrest in India

Authors: Pankaj Mankad, Srisanth Balan and Saleem Mohammed

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P102

Content type: Poster presentation Published on: 21 January 2014
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Transmission Disequilibrium Test for quantitative traits based on multiple sibs

Authors: Hemant S Kulkarni and Saurabh Ghosh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P103

Content type: Poster presentation Published on: 21 January 2014
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Evaluation of MC4R [RS17782313, RS17700633], AGRP [RS3412352] and POMC [RS1042571] polymorphisms with obesity in Northern India

Authors: Apurva Srivastava, Balraj Mittal, Jai Prakash and Neena Srivastava

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P104

Content type: Poster presentation Published on: 21 January 2014
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Population allele frequencies of disease associated SNPs in India: a paradigm shift from HapMap

Authors: Pankaj Mankad, Srisanth Balan and Saleem Mohammed

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P105

Content type: Poster presentation Published on: 21 January 2014
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Genetic Variation in Intercellular Adhesion Molecule-1 (ICAM-1): candidate gene in susceptibility to malaria in the Indian population

Authors: Anuroopa Gupta and Harish Padh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P106

Content type: Poster presentation Published on: 21 January 2014
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Genetic affinities of six populations of Manipur using a microsatellite (STR) marker

Authors: Ahsana Shah, Ruqaiya Hussain and Mohammad Afzal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P107

Content type: Poster presentation Published on: 21 January 2014
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Microsatellite variation and allele frequency distribution for (TPOX) STRS locus in North Indian Muslim populations

Authors: Ruqaiya Hussain and Mohammad Afzal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P108

Content type: Poster presentation Published on: 21 January 2014
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Genetic variation of ITGB3 is associated with Autism Spectrum Disorders (ASD) in South Indian children

Authors: Femina KMB Nair, PA Suresh and Moinak Banerjee

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P109

Content type: Poster presentation Published on: 21 January 2014
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Association of Genetic Polymorphisms in STAT 3, STAT 5b and GWAS Identified PTPN22 Gene with Rheumatic Heart Disease

Authors: Usha Gupta, Avshesh Mishra, Saurabh S Rathore, Snober S Mir, SK Agarwal, Naveen Garg and Balraj Mittal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P110

Content type: Poster presentation Published on: 21 January 2014
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Role of cholecystokinin receptor-A gene polymorphism in development of functional dyspepsia

Authors: Rajan Singh, Balraj Mittal and Uday C Ghoshal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P111

Content type: Poster presentation Published on: 21 January 2014
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Role of sarcomeric gene polymorphisms on left ventricular dysfunction in coronary artery disease patients

Authors: Surendra Kumar, Avshesh Mishra, Anshika Srivastava, Naveen Garg, Surendra Kumar Agarwal, Shantanu Pande and Balraj Mittal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P112

Content type: Poster presentation Published on: 21 January 2014
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A novel mutation in 3’UTR of GJB2 gene in autosomal recessive nonsyndromic sensorineural hearing loss in South Indian population

Authors: Maria sebastian, Praveena Davis, Padmaja Ramdas and Moinak Banerjee

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P113

Content type: Poster presentation Published on: 21 January 2014
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IL 10 gene -1082 G/A shows an associatoin with rheumatoid arthritis patients of South Indian Population

Authors: EK Krishna Priya, Moinak Banerjee, S Rajesh and K Sasikala

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P114

Content type: Poster presentation Published on: 21 January 2014
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A case-control association study of K121Q and G/T Variants in ENPP1 and TCF7L2 gene with type 2 diabetes mellitus in North Indian Punjabi Population

Authors: Basanti Barna, Badaruddoza, Kawaljit Matharoo and Amarjeet Singh Bhanwer

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P115

Content type: Poster presentation Published on: 21 January 2014
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A multifactorial dimensionality reduction model for gene polymorphisms and environmental interaction analysis for the detection of susceptibility for type 2 diabetic and cardiovascular diseases

Authors: Badaruddoza, Basanti Barna, Kawaljit Matharoo and Amarjeet Singh Bhanwer

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P116

Content type: Poster presentation Published on: 21 January 2014
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Association of clock gene variants with Autism Spectrum Disorder in South Indian population

Authors: Ann Mary Alex, PA Suresh and Moinak Banerjee

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P117

Content type: Poster presentation Published on: 21 January 2014
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Skin miRNA profiling reveals differentially expressed miRNA signatures from non-segmental vitiligo patients

Authors: Mohmmad Shoab Mansuri, Mala Singh, Naresh C Laddha, Mitesh Dwivedi, Yogesh S Marfatia and Rasheedunnisa Begum

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P118

Content type: Poster presentation Published on: 21 January 2014
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Gene copy number variation in Indian population and its implication in health

Authors: Suhani Almal and Harish Padh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P119

Content type: Poster presentation Published on: 21 January 2014
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Maternal gene polymorphisms of folate metabolism as genetic risk factor for Down syndrome in North Indian population

Authors: Sushil Kumar Jaiswal, Ashok Kumar, Vineeta Gupta, Anjali Rani and Amit Kumar Rai

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P120

Content type: Poster presentation Published on: 21 January 2014
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Molecular basis of DYT1 and DYT6 primary dystonia in Indian patients

Authors: Subhajit Giri, Arindam Biswas, Shyamal Kumar Das, Kunal Ray and Jharna Ray

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P121

Content type: Poster presentation Published on: 21 January 2014
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Role of Dopamine β Hydroxylase (DBH) in Parkinson's disease patients of Indian population

Authors: Arunibha Ghosh, Arindam Biswas, Tamal Sadhukhan, Shyamal Kumar Das and Jharna Ray

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P122

Content type: Poster presentation Published on: 21 January 2014
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Beta thalassemia prevention in India: evaluation of socio- cultural factors

Authors: Swati Chawla, Rajnish Singh and VR Rao

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P123

Content type: Poster presentation Published on: 21 January 2014
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Prenatal diagnosis of Tay-Sachs disease: our institutional experience

Authors: Jayesh Sheth, Mehul Mistri, Frenny Sheth and Sarita Gupta

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P124

Content type: Poster presentation Published on: 21 January 2014
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Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Authors: Mehul Mistri, Harsh Patel, Tanmay Tanna, Chitra Ankleshwaria, Frenny Sheth and Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P125

Content type: Poster presentation Published on: 21 January 2014
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Prenatal diagnosis of lysosomal storage disorders: our experience in 120 cases

Authors: Mehul Mistri, Nrupesh Oza, Frenny Sheth and Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P126

Content type: Poster presentation Published on: 21 January 2014
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Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis

Authors: Pankaj Sharma, Madhumita Roy Chowdhury, Neerja Gupta, Rashmi Shukla, Shruthi Sudarshan, Manju Ghosh, Deepika Deka and Madhulika Kabra

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P127

Content type: Poster presentation Published on: 21 January 2014
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Exposure to ionizing radiations can cause hazardous effects on differentiation of human CD34+ hematopoietic stem cells

Authors: Angshuman Biswas, Asiti Sarma and Subrata Kumar Dey

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P128

Content type: Poster presentation Published on: 21 January 2014
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Impact of Vedic Chants Intervention Programme on Autistic Spectrum Disorder

Authors: Kandasamy Dinesh Kumar, Sushruth Badhe and Sathiyavedu Santhiya

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P129

Content type: Poster presentation Published on: 21 January 2014
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Molecular basis of lysosomal storage disorders in India

Authors: Shweta P Kondurkar, Parag Tamhankar, Pratima Kondurkar, Ashwin Dalal and Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P130

Content type: Poster presentation Published on: 21 January 2014
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Genome-wide analysis identifies common CNVs associated with primary open angle glaucoma

Authors: Lalit Kaurani, Mansi Vishal, Dhirender Kumar, Bharati Mehani, Charu Sharma, Anchal Sharma, Debasis Dash, Jharna Ray, Abhijit Sen, Kunal Ray and Arijit Mukhopadhyay

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P131

Content type: Poster presentation Published on: 21 January 2014
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Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics

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