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Although breakthroughs have been made in identifying disease-related genes for single-gene neurogenetic diseases in recent years, there is still an unsolved challenge for personalized medicine, that is, whether mutation carriers will show the corresponding disease, and if so , When and to what extent it will show up.
Whether the mutation carrier will show the corresponding disease, if so, when and to what extent.
Therefore, it is necessary to clarify the penetrance and the manifestation of the disease and the potential for transformation, but this is usually affected by many factors.
X-linked muscular tension disorders - Parkinson's disease (XDP, DYT / PARK-TAF1 ) is a rare disease, a patient shared ancestor mutation and from the same region (Philippines Panay Island).
The local clinical research team has accumulated a relatively large sample size, which makes XDP an ideal model for studying genetic modifiers related to disease expression.
A GWAS study on the age of onset of XDP patients
XDP patient age of onset of GWAS studies GWASThe study used a genome-wide association study (GWAS) to determine other factors that change the age of onset (AAO) .
The study uses a genome-wide association study (GWAS) to determine other factors that change the age of onset (AAO).
The relationship between age of onset and SNPs in three independent regions
The relationship between age of onset and SNPs in three independent regionsIn summary, the results of this study show that in X-linked dystonia-Parkinson's disease, there are three potential age-related regulatory factors that affect the DNA mismatch repair pathway.
In X-linked dystonia-Parkinson's disease, there are three potential age-related regulatory factors that affect the DNA mismatch repair pathway.
org/10.
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