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 2 of 5

Challenges in prenatal and pre-implantation genetic diagnosis studies

Authors: Prochi Madon

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I50

Content type: Speaker presentation Published on: 21 January 2014
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Perspective of stem cell research & therapy in diabetes

Authors: Sarita Gupta

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I61

Content type: Speaker presentation Published on: 21 January 2014
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Use of array CGH for molecular characterization of genetic disorders

Authors: Ashish Bahal, P Rajitha and Ashwin Dalal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P1

Content type: Poster presentation Published on: 21 January 2014
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Role of betel quid in changing oral pathology

Authors: Aniket Adhikari, Subhrajyoti Mukherjee, Kaustav Roy, Ranjan Roychowdhury and Madhusnata De

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P5

Content type: Poster presentation Published on: 21 January 2014
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Vitamin D receptor gene polymorphisms modulate the clinico-radiological response to vitamin D supplementation in knee osteoarthritis

Authors: Divya Sanghi, RN Srivastava and Sarita Agarwal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P13

Content type: Poster presentation Published on: 21 January 2014
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Association of Vitamin D₃ levels with glycemic control in Type 2 diabetes subjects from Gujarati population-India

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

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P36

Content type: Poster presentation Published on: 21 January 2014
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Effect of PPAR-γ2 Gene Pro12Ala polymorphism (Rs1801282) and Vitamin D₃ on glucose homeostasis in Type 2 diabetic subjects from Gujarat-India

Authors: Avisek Majumder, Frenny Sheth, Manan Patel, Bhavik Doshi, Navneet Shah, Premal Thankor, Rama Vaidya and Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P37

Content type: Poster presentation Published on: 21 January 2014
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Transferrin (rs3811647) gene polymorphism in iron deficiency anemia

Authors: K Sri Manjari, KSPS Teja, M Sujatha, A Jyothy, Pratibha Nallari and A Venkateshwari

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P38

Content type: Poster presentation Published on: 21 January 2014
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CD36 gene variants and their potential in determining T2DM susceptibility

Authors: Monisha Banerjee, Sunaina Gautam and CG Agrawal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P39

Content type: Poster presentation Published on: 21 January 2014
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Mitochondrial-nuclear epistasis contributes to phenotypic variation in wild yeasts

Authors: Swati Paliwal, Anthony C Fiumera and Heather L Fiumera

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P40

Content type: Poster presentation Published on: 21 January 2014
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Association of pro-inflammatory cytokine gene polymorphisms with schizophrenia in South Indian population

Authors: Lekshmy Srinivas, NV Neetha, Chandrasekharan Nair, Priya M Allencherry and Moinak Banerjee

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P41

Content type: Poster presentation Published on: 21 January 2014
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Glutamate transporter genes are associated with schizophrenia in South Indian population

Authors: Ajay Jajodia, Harpreet Kaur, Ruchi Baghel, Gurpreet Kaur, Sanjeev Jain and Ritushree Kukreti

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P42

Content type: Poster presentation Published on: 21 January 2014
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Association of HLA-G 14bp INS/DEL Polymorphism with brain morphology in Schizophrenia

Authors: Ashwini Rajasekaran, Venkataram Shivakumar, Deepthi Venugopal, Sunil V Kalmady, Anekal C Amaresha, Mahavir Agarwal, Janardhanan C Narayanaswamy, Ganesan Venkatasubramanian and Monojit Debnath

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P43

Content type: Poster presentation Published on: 21 January 2014
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Stress and 5-HTT (SLC6A4) as an indicator of suicidal behavior: a population study among the Dubla tribe of Daman

Authors: Sweta Saha, Masan Kambo Newmei, Shivani Pasi, Piyoosh Kumar Singh and Vadlamudi Rao

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P44

Content type: Poster presentation Published on: 21 January 2014
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Significance of gain and loss of chromosomal abnormalities in AML: an Indian experience

Authors: Pina J Trivedi, Manisha M Brahmbhatt, Dharmesh M Patel, Esha N Dalal, Geeta Joshi and Prabhudas S Patel

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P45

Content type: Poster presentation Published on: 21 January 2014
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Chromosomal abnormalities and hormonal imbalance in patients with amenorrhea in Tamilnadu

Authors: G Bhavani, RS Chandra, D Anuradha and ST Santhiya

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P46

Content type: Poster presentation Published on: 21 January 2014
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Partial deletion of distal long arm encompassing Jacobsen Syndrome

Authors: Manisha Desai, Bhumi Patel, Chaitanya Datar, Anand Pandit, Prakash Ghambhir, Darshana Nayak, Jayesh Sheth and Frenny Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P47

Content type: Poster presentation Published on: 21 January 2014
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In vitro fluoride induced genotoxic effect on human blood lymphocyte cells and its amelioration by emblica officinalis extract

Authors: Swati B Thakur and Mandava V Rao

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P48

Content type: Poster presentation Published on: 21 January 2014
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Genetic damage biomarkers in buccal epithelial cells of healthy individuals staying near three mobile phone base stations

Authors: Naresh Mahajan, Akbar Bhat and Gursatej Gandhi

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P49

Content type: Poster presentation Published on: 21 January 2014
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Role of δ-Aminolevulinic Acid Dehydratase (ALAD) gene polymorphism in lead induced nephrotoxicity

Authors: Mugdha Tiwari, LJ Bhagia, I Shaikh and D Rohila

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P50

Content type: Poster presentation Published on: 21 January 2014
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Genome wide association study to identify SNPs associated with Homocysteine, Vitamin B₁₂ and holotranscobalamin in Indian Population

Authors: Vinay Singh Tanwar, Gaurav Garg, Ankur Mukherjee, Ganesan Karthikeyan, Sandeep Seth, Analabha Basu and Shantanu Sengupta

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P51

Content type: Poster presentation Published on: 21 January 2014
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Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)

Authors: Chitra Ankleshwaria, Jayesh Sheth, Mehul Mistri, Ashish Bavdekar, Sheela Nampoothiri, Sarita Gupta and Frenny Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P52

Content type: Poster presentation Published on: 21 January 2014
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Identification of novel mutations in HEXA gene in children affected with Tay-Sachs disease from India

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

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P53

Content type: Poster presentation Published on: 21 January 2014
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Live-cell imaging of compartment-specific redox changes in menkes disease fibroblasts

Authors: Ashima Bhattacharjee, Martina Ralle and Svetlana Lutsenko

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P54

Content type: Poster presentation Published on: 21 January 2014
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Characterization of prenatally detected small Supernumerary Marker Chromosomes (sSMC) by molecular cytogenetic technique: FISH

Authors: Bhumi Patel, Thomas Liehr, Manisha Desai, Bindu Parikh, Jayesh Sheth and Frenny Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P55

Content type: Poster presentation Published on: 21 January 2014
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Assessment of 1p/19q deletion by flourescence insitu hybridization (FISH) in glioma patients from Andhrapradesh

Authors: Eppa Kavitha, Iravathy Goud, Swarna Latha, Meenakshi Swain, Michelle De Paude, Tejal Modi, Anuradha, Ravi V, Sakina Aneeb, Adi Maha Lakshmi M and Vijayanand Reddy P

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P56

Content type: Poster presentation Published on: 21 January 2014
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Split hand/foot malformation type 1 associated with 7q21.3 deletion - a case report

Authors: S Aswini, S Ambika, KS Pooja, D Anuradha, JS Kadandale and CR Samuel

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P57

Content type: Poster presentation Published on: 21 January 2014
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Autosomal dominant mutation in COL7A1 gene causing epidermolysis bullosa dystrophica

Authors: Jayesh Sheth, Mehul Mistri, Harsh Patel, Chitra Ankleshwaria and Aradhana Parikh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P58

Content type: Poster presentation Published on: 21 January 2014
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A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9

Authors: Usha R Dutta, Vijaya Kumar Pidugu, Vera M Kalscheuer and Ashwin B Dalal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P59

Content type: Poster presentation Published on: 21 January 2014
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Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population

Authors: Anusha Uttarilli, S Jamal Md Nurul Jain, Ashwin B Dalal, Prajnya Ranganath, Shubha R Phadke, Girisha Kumar, Sankar, SJ Patil, Madhulika Kabra and Sumita Danda

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P60

Content type: Poster presentation Published on: 21 January 2014
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Association of ESR and FOXP3 gene polymorphisms with outcome of ovarian stimulation in infertile females undergoing IVF

Authors: Arun Kiran Patnam, R Vinu, J Vijayalakshmi, P Venkatachalam and G Usha Rani

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P61

Content type: Poster presentation Published on: 21 January 2014
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Protein structure prediction for novel mutations in Arylsulfatase-A gene

Authors: M Divya, S Jamal Md Nurul Jain, SR Phadke, Ratna Kishore, Mahesh Kamate, Neerja Gupta and Ashwin Dalal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P62

Content type: Poster presentation Published on: 21 January 2014
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A family based study on T-C transition polymorphism in Cyp17a1 gene in Indian children

Authors: Sukanya Gayan, Abid Ali, Rajeev Kumar Pandey and Minu Bajpai

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P63

Content type: Poster presentation Published on: 21 January 2014
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Frequency analysis of Spinocerebellar ataxia types 1, 2, 3 & 6 in patients with ataxia from Gujarat

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

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P64

Content type: Poster presentation Published on: 21 January 2014
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Genetic susceptibility of Henoch-Schönlein purpura in children

Authors: Ritu Aggarwal, Anju Gupta, Jasmine Naru, Neha Nanda, Manila Salaria, Deepti Suri and Surjit Singh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P65

Content type: Poster presentation Published on: 21 January 2014
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Evaluation of galectin-3 genetic variants and lipid profile in RA patients in North Indian population

Authors: Tarnjeet Kaur, Manpreet Kaur, Jatinder Singh, Sukhdev Singh and Sumeet Arora

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P66

Content type: Poster presentation Published on: 21 January 2014
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Possible involvement of altered expression of BDNF exon II gene and specific dopamine receptors in simvastatin induced beneficial effects in depression

Authors: Digvijay G Rana, Amrut Patel, CG Joshi and Ramesh K Goyal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P67

Content type: Poster presentation Published on: 21 January 2014
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Genetic, metabolic and cellular factors influencing intracellular localization of the Wilson disease protein, ATP7B

Authors: Arnab Gupta, Ashima Bhattacharjee, Nesrin Hasan, Lita Braiterman, Svetlana Lutsenko and Ann L Hubbard

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P68

Content type: Poster presentation Published on: 21 January 2014
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Association of microRNA-146a and their target gene IRAK-1 polymorphism with enthesitis related arthritis category of juvenile idiopathic arthritis

Authors: Sushma Singh, Geeta Rai and Amita Aggarwal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P69

Content type: Poster presentation Published on: 21 January 2014
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TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population

Authors: Pawan Kumar Singh, Shipra Sharma, Manju Ghosh, Shivaram S Shastri, Neerja Gupta, Madhumita Roy Chowdhury and Madhulika Kabra

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P70

Content type: Poster presentation Published on: 21 January 2014
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Significance of nucleophosmin1 (NPM1) gene mutation status on acute myeloid leukaemia patients with normal karyotype in South India

Authors: R Sureshkumar, S Santhi, V Sangeetha, N Geetha and S Hariharan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P71

Content type: Poster presentation Published on: 21 January 2014
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Role of TNF-A, IL-6 and IL-4 with the susceptibility to chronic periodontitis in North Indian population: a multi-analytic approach

Authors: Garima Prakash, Sadhna Ajay, KK Gupta and Balraj Mittal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P72

Content type: Poster presentation Published on: 21 January 2014
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Bio-chemical and molecular analysis in cardiomyopathy patients

Authors: Rutvik J Raval, Tapan A Patel, PL Sachapara and Mandava V Rao

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P73

Content type: Poster presentation Published on: 21 January 2014
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Cytogenetic and Yq microdeletion screening studies in infertile males

Authors: J Suganya, Kamala Selvaraj, SS Muthaiah and RS Chandra

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P74

Content type: Poster presentation Published on: 21 January 2014
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Molecular studies on ARX gene in syndromic and non-syndromic mental retardation

Authors: Gayatri Kulkarni and Suvidya Ranade

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P75

Content type: Poster presentation Published on: 21 January 2014
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Squared nasal root, nasal voice -indicators of 22 q11.2 deletion in patients with psychiatric illness

Authors: Jyothilakshmi Annavarapu, Prabhavathi Halappa, Niby J Elackatt, Mitesh Shetty and Sridevi Hegde

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P76

Content type: Poster presentation Published on: 21 January 2014
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TiO2 nanoparticles induce cytotoxicity and genotoxicity in human alveolar cells

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

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P77

Content type: Poster presentation Published on: 21 January 2014
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PEGylated nanoceria protect human epidermal cells from reactive oxygen species

Authors: Ragini Singh, Ritesh K Shukla, Ashutosh Kumar, Alok Dhawan and Sanjay Singh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P78

Content type: Poster presentation Published on: 21 January 2014
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TiO2 nanoparticles induced micronucleus formation in human liver (HepG2) cells: comparison of conventional and flow cytometry based methods

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

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P79

Content type: Poster presentation Published on: 21 January 2014
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Host-guest mediated sensing of biologically relevant small molecules using supramolecular nanoassembly

Authors: Alok Pandya, Pinkesh G Sutaria, Anand Lodha, Heena Goswami and Shobhana K Menon

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P80

Content type: Poster presentation Published on: 21 January 2014
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