التفاصيل البيبلوغرافية
| العنوان: |
Linkage Disequilibrium and Association of MAPT H1 in Parkinson Disease. |
| المؤلفون: |
Skipper, Lisa1, Wilkes, Kristen1, Toft, Mathias1,2, Baker, Matthew1, Lincoln, Sarah1, Hulihan, Mary1, Ross, Owen A.1,3, Hutton, Mike1, Aasly, Jan2, Farrer, Matthew1 farrer.matthew@mayo.edu |
| المصدر: |
American Journal of Human Genetics. Oct2004, Vol. 75 Issue 4, p669-677. 9p. |
| مصطلحات موضوعية: |
*PARKINSON'S disease & genetics, *LINKAGE (Genetics), *GENETIC polymorphisms, *MEDICAL genetics |
| مصطلحات جغرافية: |
NORWAY |
| مستخلص: |
The MAPT H1 haplotype has been associated with four-repeat (4R) tauopathies, including progressive supranuclear palsy, corticobasal degeneration, and argyrophilic grain disease. More controversial is that the same haplotype has been associated with Parkinson disease (PD). Using H1-specific single-nucleotide polymorphisms, we demonstrate that MAPT H1 is a misnomer and consists of a family of recombining H1 alleles. Population genetics, linkage disequilibrium, and association analyses have shown that specific MAPT H1 subhaplotypes are preferentially associated with Parkinson disease. Using a sliding scale of MAPT H1-specific haplotypes—in age/sex-matched PD cases and controls from central Norway—we have refined the disease association to within an ∼90-kb interval of the 5' end of the MAPT locus. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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