| According to the clinical characteristics, the Parkinson's pedigree that we found in China is an autosomal dominant(AD) pedigree. A suitable positional cloning strategy is designed to map the disease gene according the Parkinson disease's features. The disease gene is hoped to be found by this strategy and a modest platform for mapping complex disease gene(like Parkinson disease gene) will be set up through applying this strategy which base on the positional cloning technology from the big family.It is a systematic project for mapping a disease gene from a pedigree. Firstly, the method of linkage and haplotype sharing is taken to exclude the susceptible disease gene which reported by other paper from the pedigree. Secondly, a whole genomic scan was performed by the high density SNP Chip. The disease gene is exactly located on the chromosome 5 and chromosome 12 through parameter and non-parameter linkage analysis. Thirdly, the expansion of CAG in 5' coding region of ATXN2 gene is detected in candidate gene region. The study data supports that it is the disease gene of the Chinese big family. It is reported that the expansion of CAG in 5' coding region of ATXN2 gene is the characteristic of SCA2. Therefore, the big family is the SCA2 pedigree.It is reported that the case of SCA2 with Parkinsonism pedigree which is sensitive to the Levo-dopa treatment is very rare,. Till now, It has been published that up to 10ï¼…Parkinson disease families is SCA2 families in Taiwan. Another finding of the study is that SCA2 with Parkinsonism pedigree is 6ï¼…in Japanese Parkinson disease. It is suggested that there is a racial and population difference in the pathology of SCA2. In addition, a modifier gene on chromosome 5 is believed to exacerbate the disease in this pedigree.All in all, it is responsible to apply this kind of positional cloning strategy for finding the disease gene in this big family. It is also executable in the gene mapping of predominant complex disease.
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