2000 Fiscal Year Final Research Report Summary

Genetic analysis of phytosterolemia

Research Project

Project/Area Number	11672290
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Single-year Grants
Section	一般
Research Field	Laboratory medicine
Research Institution	The University of Tokyo
Principal Investigator	HASHIMOTO Yoshiaki University of Tokyo, Faculty of Medicin Lecturer, 医学部・附属病院, 講師 (40172879)
Co-Investigator(Kenkyū-buntansha)	TUKAMTO Kazuhisa University of Tokyo, Faculty of Medicin Assistant, 医学部・附属病院, 助手 (20251233) YUMOTO Masato University of Tokyo, Faculty of Medicin Assistant, 医学部・附属病院, 助手 (30240170)
Project Period (FY)	1999 – 2000
Keywords	phytosterolemia / Xanthomatosis / β sitosterol / homozygosity mapping
Research Abstract	Two women with multiple xanthomas, intermittent arthritis and thrombocytopenia were diagnosed as phytosterolemia, an autosomal-recessive lipid storage disease, based on their increased serum concentrations of β-sitosterol, campesterol and sitostanol. The gene responsible for this disease is located within the distance of 18 centiMorgan, between microsatellite markers of D2S1788 and D2S1352 at chromosome 2p21. We genotyped the patients and their family members with sixteen microsatellite markers around this locus. The results from the homozygosity mapping of one family suggested that the gene was located within the distance of 12.6 centiMorgan between D2S2328 and D2S1352. We have shortened the genetic distance by 5.4 centiMorgan.