Article

Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsy.

Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic Universitari, Villarroel 170, 08036 Barcelona, Spain.
Neuroscience Letters (impact factor: 2.11). 05/2003; 340(2):158-60. pp.158-60
Source: PubMed

ABSTRACT The nuclear factor kappa B inducing kinase gene (NIK) is located near the region of the haplotype associated with progressive supranuclear palsy (PSP) in chromosome 17q. We have analysed the coding region of the NIK gene in PSP patients through single strand conformation polymorphism and direct sequencing, in order to investigate the possible existence of pathogenic mutations. A change in exon 15 consisting of a G/C variation in position 2839 was found. This change was then analysed through restriction endonuclease HphI in 40 PSP samples and 35 control samples, but no differences in allelic frequency were found between the PSP and control groups. Our results do not support a pathogenic role of the NIK gene in PSP.

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Keywords

35 control samples
 
40 PSP samples
 
chromosome 17q
 
G/C variation
 
haplotype
 
NIK gene
 
nuclear factor kappa B inducing kinase gene
 
pathogenic mutations
 
pathogenic role
 
progressive supranuclear palsy
 
PSP
 
PSP patients
 
restriction endonuclease HphI
 
single strand conformation polymorphism