Analysis of Single Nucleotide Polymorphisms of PRNP Gene in twenty-four Ethnic Groups of India
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
View Archive Info| Field | Value | |
| Title |
Analysis of Single Nucleotide Polymorphisms of PRNP Gene in
twenty-four Ethnic Groups of India
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| Creator |
Sengupta, M
Chakraborty, Amrita Ray, Kunal |
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| Subject |
Molecular & Human Genetics
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| Description |
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.
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| Date |
2010
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://www.eprints.iicb.res.in/80/1/JOURNAL_OF_GENETICS_89(2)_247%2D251_;2010[48].pdf
Sengupta, M and Chakraborty, Amrita and Ray, Kunal (2010) Analysis of Single Nucleotide Polymorphisms of PRNP Gene in twenty-four Ethnic Groups of India. Journal of Genetics, 89 (2). pp. 247-251. |
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| Relation |
http://dx.doi.org/10.1007/s12041-010-0034-x
http://www.eprints.iicb.res.in/80/ |
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