Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease
Copyright policy )Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease
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.
- Central South University China (People's Republic of)
Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Serine Endopeptidases, High-Temperature Requirement A Serine Peptidase 2, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Polymorphism, Single Nucleotide, Sodium Channels, Mitochondrial Proteins, Asian People, Parkinsonian Disorders, Humans, Carrier Proteins, Ubiquitin Thiolesterase
Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Serine Endopeptidases, High-Temperature Requirement A Serine Peptidase 2, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Polymorphism, Single Nucleotide, Sodium Channels, Mitochondrial Proteins, Asian People, Parkinsonian Disorders, Humans, Carrier Proteins, Ubiquitin Thiolesterase
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).15 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!