title: The LRRK2 gene is mutated in a Chinese autosomal-dominant Parkinson's disease family.
abstract: The mutation of the leucine-rich repeat kinase2 gene (LRRK2) is the most commonly detected genetic determinant of Parkinson's disease (PD). However, the specific role of the LRRK2 mutation in the occurrence of the autosomal-dominant family PD remains to be elucidated. In this study, we report a large Chinese LRRK2-related PD family with 33 members of four generations. Genomic DNA was isolated from peripheral blood specimens of 11 family members. The common LRRK2 mutations were screened by polymerase chain reaction, followed by polymorphic restriction enzyme digestion or direct DNA sequencing. We detected the G2385R mutation, a substitution at codon 2385 to produce a glycine-to-arginine phenotype, in two affected cases and one suspected case. Our data support the concept that the LRRK2 G2385R mutation may be involved in the pathogenesis of PD in this family.
authors.affiliation: Department of Neurology, Second Hospital of Jilin University, Changchun, Jilin Province, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Guo
authors.forename: Xinyu
authors.initials: X
authors.lastname: Hu
authors.forename: Qiuhui
authors.initials: Q
authors.lastname: Chen
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yizhi
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yajuan
authors.initials: Y
authors.lastname: Sun
authors.forename: Guohua
authors.initials: G
authors.lastname: Hu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases