2009 Fiscal Year Final Research Report

Identification of the gene responsible for hereditary spastic paraplegia by homozygosity haplotype mapping

Research Project

Project/Area Number	20790622
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Single-year Grants
Research Field	Neurology
Research Institution	Saitama Medical University
Principal Investigator	KOHDA Masakazu Saitama Medical University, 医学部, 研究員 (20415417)
Project Period (FY)	2008 – 2009
Keywords	遺伝子疾患 / 単一遺伝子疾患
Research Abstract	The purpose of this study was to identify the gene responsible for hereditary spastic paraplegia (HSP). The research was carried out as follows : 1) Continuous sampling, 2) Searching for mutations by sequencing, 3) Analysis of structural chromosome aberrations, 4) SNP array analysis for gene discovery. As a result, we confirmed that well-known causative genes do not cause HSP of this family. Furthermore, our analysis narrowed down candidate regions for disease-phenotypes to two chromosomal regions. This has led to the second set of experiments, we will conduct mutation search at the two candidate regions by using high throughput sequencers.