Screening of two indel polymorphisms in the 5'UTR of the DJ-1 gene in South African Parkinson's disease patients.
Mutations in the DJ-1 gene have been implicated in early-onset Parkinson's disease (PD). Two indel variants (g.168_185del and g.-6_+10del) in the 5'UTR of DJ-1 have been described. Genotyping of both variants in 402 South African PD patients of various ethnicities and 528 ethnically matched controls revealed that they are rare in the South African population. Further studies on these variants in other populations are warranted given their possible role in transcriptional regulation and DJ-1's critical role in alleviating oxidative stress.
Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, P.O. Box 19063, Cape Town, 7505, South Africa, blindycycle@sun.ac.za.
Brigitte
B
Glanzmann
Debbie
D
Lombard
Jonathan
J
Carr
Soraya
S
Bardien
D020121:5' Untranslated Regions / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D015513:Oncogene Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D013019:South Africa / Q000453:epidemiology / Q000208:ethnology; D055815:Young Adult
D020121:5' Untranslated Regions; D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1