TY - JOUR
T1 - HD phenocopies - Possible role of saitohin gene
AU - Janković, N.
AU - Kecmanović, M.
AU - Dimitrijević, R.
AU - Marković, M. Keckarević
AU - Dobričić, V.
AU - Keckarević, D.
AU - Savić-Pavićević, D.
AU - Romac, S.
N1 - Funding Information:
Keywords HD phenocopies, microtubule-associated protein tau, neurodegenerative diseases, peroxiredoxin 6, polymorphism, Saitohin Received 25 July 2007. This work was supported by a grant from the Serbian Ministry of Science and Environmental Protection (143013B). The study was approved by the Ethical Committee of the Clinical Center of Serbia. Address correspondence to Dr. Stanka Romac, Faculty of Biology, University of Belgrade, Studentski trg 16 PO Box 52 Belgrade, 11000 Serbia E-mail: [email protected]
PY - 2008/3
Y1 - 2008/3
N2 - Saitohin (STH) is located in the intron of the human gene for microtubule-associated protein tau. Q7R polymorphism has been identified in the STH gene. Some neurodegenerative disorders were found to be associated with the presence of certain STH allele. This study genotyped 37 subjects with diagnosis of Huntington's disease, but lacking mutations in HD, PRNP, JPH-3, and FTL genes for STH polymorphism. It was determined that Q allele of STH gene was over-represented in a tested group of patients (P > Pt). Over-representation of Q allele in a group of patients might be considered as genetic risk factor for HD like diseases.
AB - Saitohin (STH) is located in the intron of the human gene for microtubule-associated protein tau. Q7R polymorphism has been identified in the STH gene. Some neurodegenerative disorders were found to be associated with the presence of certain STH allele. This study genotyped 37 subjects with diagnosis of Huntington's disease, but lacking mutations in HD, PRNP, JPH-3, and FTL genes for STH polymorphism. It was determined that Q allele of STH gene was over-represented in a tested group of patients (P > Pt). Over-representation of Q allele in a group of patients might be considered as genetic risk factor for HD like diseases.
UR - http://www.scopus.com/inward/record.url?scp=40049098967&partnerID=8YFLogxK
U2 - 10.1080/00207450701593103
DO - 10.1080/00207450701593103
M3 - Journal articles
C2 - 18300012
AN - SCOPUS:40049098967
SN - 0020-7454
VL - 118
SP - 391
EP - 397
JO - International Journal of Neuroscience
JF - International Journal of Neuroscience
IS - 3
ER -