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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Journal of Geneticsarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Journal of Genetics
Article . 2010 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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Analysis of single nucleotide polymorphisms of PRNP gene in twenty-four ethnic groups of India

Authors: Mainak, Sengupta; Amrita, Chakraborty; Kunal, Ray;

Analysis of single nucleotide polymorphisms of PRNP gene in twenty-four ethnic groups of India

Abstract

Human prion protein (PRNP), a copper binding sialoglycoprotein, is the causative agent for transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases that are generally associated with aggregation of amyloid plaques within the central nervous system disrupting the normal tissue structure (Liberski et al. 2001; Aguzzi et al. 2008). While more than 20 PRNP pathogenic mutations have been reported in patients, polymorphisms in the gene have been suggested to influence the incidence of the diseases with a Met129Val polymorphism (rs1799990) being the most important among them (Soldevila et al. 2006). This particular variant has been found to be associated with different prion related diseases as well as cognitive behaviour and long-term memory. Here, as a part of the effort from Indian Genome Variation Consortium (IGVC), we attempt to establish the baseline allele and genotype frequency of four PRNP SNPs including rs1799990 among 24 ethnic groups representing the Indian population. The allele and genotype frequency of rs1799990 is found to be different among different ethnic groups. This pilot study would serve as a platform for future epidemiologicalworks with respect to PRNP SNPs in India.

Keywords

Genotype, Genetic Linkage, Prions, Genetic Variation, India, Polymorphism, Single Nucleotide, Prion Proteins, Prion Diseases, Humans, Alleles

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
Average
Average