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RFLP, restriction fragment-length polymorphism; RT, reverse transcription.

RFLP, restriction fragment-length polymorphism; RT, reverse transcription.

are rare, the search for novel mutations in known genes involves more sequencing or a mutation detection assays, or the gene itself is not known. The two known point mutations in the a-synuclein gene may be conveniently detected by restriction endonuclease digestion of PCR products: the A53T mutation creates a novel Tsp45 I restriction site in exon 4[9] and the A30P mutation creates a new MvaI site in exon 3.[11] In the UCH-L1 gene, the I53M change, found only in a single family so far, introduces a new BsmF1 site.[20]

A diagnostic assay for the triplication of the a-synuclein gene is more complex and would involve FISH or quantitative real-time PCR.[17] Although large studies in various populations have shown the lack of utility of screening, even in most families with apparent dominant inheritance of PD,[12] if an a-synuclein mutation is found, the significance is great because the penetrance is practically 100%.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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