HD phenocopies--possible role of Saitohin gene.
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.
Janković
N
N
Faculty of Biology, University of Belgrade, Belgrade, Serbia.
Kecmanović
M
M
Dimitrijević
R
R
Keckarević Marković
M
M
Dobricić
V
V
Keckarević
D
D
Savić Pavicević
D
D
Romac
S
S
D000483:Alleles; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D015870:Gene Expression / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016875:tau Proteins / Q000235:genetics*
D017931:DNA Primers; C458340:STH protein, human; D016875:tau Proteins