title: Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease.
abstract: Autosomal dorminant Parkinson's disease (ADPD) has been associated with mutations in the SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes. We studied the prevalence of variants in all five genes in 12 Chinese unrelated families with ADPD and 4 families with both essential tremor (ET) and Parkinson's disease (PD) phenotypes using direct sequencing analysis. We found 27 variants in the LRRK2 gene, eight in GIGYF2 gene, three in the SCNA and UCHL1 gene respectively, in which five variants were novel. However, no pathogenic mutations in the five genes were found in these families. Our result indicated that SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes' mutations might not be a main reason for Chinese ADPD.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China.
authors.forename: Jin-yong
authors.initials: JY
authors.lastname: Tian
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Qi-ying
authors.initials: QY
authors.lastname: Sun
authors.forename: Ling-yan
authors.initials: LY
authors.lastname: Yao
authors.forename: Lin-zi
authors.initials: LZ
authors.lastname: Luo
authors.forename: Chang-he
authors.initials: CH
authors.lastname: Shi
authors.forename: Ya-cen
authors.initials: YC
authors.lastname: Hu
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D000074923:High-Temperature Requirement A Serine Peptidase 2; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D024101:Mitochondrial Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012697:Serine Endopeptidases / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C478016:GIGYF2 protein, human; D024101:Mitochondrial Proteins; D015222:Sodium Channels; C482860:UCHL1 protein, human; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D043222:Ubiquitin Thiolesterase; D012697:Serine Endopeptidases; C000615914:HTRA2 protein, human; D000074923:High-Temperature Requirement A Serine Peptidase 2