Identifying mutation in LRRK2 gene in Parkinson’s patients
Main Article Content
Abstract
Leucine-rich repeat kinase 2 (LRRK2) is a large gene on chromosome 12, spanning a genomic
distance of 144 kb and containing 51 exons that encode 2527 amino acids for the initiation of translation
in cell. Mutations of LRRK2 occur approximately in 5 - 10% of Parkinson’s patients who had family
history and autosomal dominant inheritance, and in 3.6% of patients with no family history. When
expressed, LRRK2 is a large, multidomain protein with scattered pathogenic mutations spanning the
entire genome. The purpose of the research is to identify mutations in LRRK2 gene of 30 Parkinson’s
patients by direct genomic sequencing. The patients were recruited from the National Geriatric
Hospital. The average age was 55.9 ± 9.5 years, and the ratio of male/female was 1.14. Mutations
were detected in 16.7% of the patients; the remaining 83.3% did not have any detectable mutations.
Article Details
Keywords
Parkinson’s disease, mutation, LRRK2 gene
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