Insilico SNP Studies for rare genetic diseases Authors: Sonika Singh , M-Tech Biotechnology (sonikasinghj@gmail.com ) Co-Author: Ram Aasarey, M-Tech Biotechnology (ram.anuj22013@gmail.com ) ABSTRACT
RARE GENETIC DISEASES
WORKING
SNP studies help scientists to locate genes associated with disease Rare genetic disease which needs SNP studiesas they may act as biological markers. SNPs are significant targets Progressive Muscular Atrophy (PMA) in clinical research and the development of new drugs. Many rare Bruck Syndrome genetic diseases like Muscular Dystrophies, one of which is an X Cystic Fibrosis linked recessive disorder (DMD) have no cure yet. It is found that Severe Combined Immunodeficiency (SCID) 1/3 of cases occurs due to spontaneous novel mutations. These CK Syndrome novel mutations can be identified using freely available SNP Duchenne Muscular Dystrophy analysing tools. These tools help us finding deleterious SNPs which further can be used for genotyping. METHODOLOGY INTRODUCTION
Fig 2. Working procedure of the SNP research
SNP variation occurs when a single nucleotide, replaces one of the other three nucleotide SNP can also behave like a genetic marker To track the inheritance of disease genes within families Resource for investigating the genetic basis of disease Polymorphisms may cause a change in a protein encoded by the gene, or the expression of that protein (Gonçalves et al. 2017) Rare diseases like Muscular Dystrophy can be studied for SNPs and mosaic mutations and stop codons can be explained
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Fig 3. Tools related to SNP studies
Gonçalves, P. F., Harris, T. H., Elmariah, T., Aukhil, I., Wallace, M. R., & Shaddox, L. M. (2018). Genetic polymorphisms and Missense SNP screened out for the analysis periodontal disease in populations of African descent: A review. Highly deleterious SNPs affecting the structure and Journal of periodontal research, 53(2), 164-173 Chen, C., Ma, H., Zhang, F., Chen, L., Xing, X., Wang, S., ... & functional properties are found Luo, Y. (2014). Screening of Duchenne muscular dystrophy Analysis gives particular nucleotide may be getting replaced (DMD) mutations and investigating its mutational mechanism in causing deleterious SNPs Chinese patients. PloS one, 9(9), e108038 SNPs affecting stability are found These deleterious SNPs are incorporated to form templates for Dinh, L. T., Nguyen, D. H., Luong, L. H., Le, P. T., Le-Anh, T. P., Tran, D. Q., ... & Tran, V. K. (2018). Mosaicism in carrier of homology modelling Duchenne muscular dystrophy mutation–Implication for prenatal TM-Align confirms domain that are found to be affected diagnosis. Taiwanese Journal of Obstetrics and Gynecology, 57(6), 878-880
CONCLUSION Fig 1. Types of SNP
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