Genetic and environmental factors involved in human genomic instability

2014 Fiscal Year Final Research Report

• Project/Area Number: 25670173
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Human genetics
• Research Institution: National Research Institute for Child Health and Development
• Principal Investigator: FUKAMI maki 独立行政法人国立成育医療研究センター, その他部局等, その他 (40265872)
• Co-Investigator(Kenkyū-buntansha): IGARASHI Maki 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (10623035) ; AYABE Tadayuki 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (80566555)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 細胞遺伝学 / ゲノム / 染色体微細構造異常 / 疾患

Outline of Final Research Achievements

In the present study, we characterized several submicroscopic chromosomal rearrangements that underlie human disorders. We utilized array-based comparative genomic hybridization and multiplex ligation dependent probe amplification. As a result, we identified simple and complex rearrangements underlying aromatase excess syndrome. We also detected a hitherto unreported deletion in the pseudoautosomal region of Y chromosome in a patient with Langer mesomelic dysplasia. In addition, we characterized multiple Y chromosomal rearrangements that are associated with the risk of azo/oligospermia.

Free Research Field

医歯薬学