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The Research about the Clinical Feature and Genetic Mutation of PD Family in North China

Author: JiangLiGang
Tutor: HuGuoHua
School: Jilin University
Course: Neurology
Keywords: Parkinson's disease Pedigree Hereditary Gene Linkage analysis
CLC: R742.5
Type: PhD thesis
Year: 2011
Downloads: 43
Quote: 0
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Abstract


Purpose : a four generations of people in northern China , the incidence of Parkinson's disease pedigrees detailed epidemiological investigation , drawing genetics map , record of clinical symptoms and signs , to carry out the study of the disease-causing gene is the cause of Parkinson's disease and pathogenesis Genetics clues . Method: Tonghua, Jilin, a four- generation 33 family members of the 13 incidence of rare PD pedigrees field survey , with family members signed informed agreed to book collecting clinical data , PD Scale Determination and related auxiliary check , draw a pedigree Genetics maps summarize the pedigrees the PD disease characteristics , is an autosomal dominant mode of inheritance . Detection of the seven then autosomal dominant Parkinson's disease is the most common point mutations screening sites , seven gene mutation PARK1 3 and exon 4 , PARK5 4th exon , PARK8 first No. 31 exons and exon 48 , exon GIGYF2 No. 2 and No. 14 . While the pedigree of the two known autosomal dominant inherited PD gene linkage analysis were designed across PARK1 , the two chromosomal locus PARK5 STR polymorphic markers for linkage analysis . Innovation points : 1 . Rare a Parkinson's disease pedigrees molecular genetics research , confirmed that the family is a clear genetic relationship between the incidence number was autosomal dominant Parkinson's disease pedigrees . The pathogenesis of Parkinson's disease pedigrees gene causative gene and mutation site screening analysis found the gene mutation of chromosome No. 4 , to provide new clues to the genetic study of Parkinson 's disease , and enrich our as the most populous country in the genetics of Parkinson's disease research . The final results : the multi-generation multiplayer onset of PD everybody is rare in the country , clinical information very rare , molecular biology and genetics research has made it clear that chromosome 4 gene mutation , the mutation sites PARK1 4 No. exon of 140bp-180bp166 bases (T missing ) , the gene mutation is a Chinese Parkinson 's disease , a rare genetic type .

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CLC: > Medicine, health > Neurology and psychiatry > Neurology > Brain diseases > Paralysis agitans syndrome
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