Genomic background of pseudohypoparathyroidism 1B

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K19630
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Chiba University
• Principal Investigator: takatani rieko 千葉大学, 医学部附属病院, 特任助教 (20772370)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 偽性副甲状腺機能低下症1B / インプリンティング異常症

Outline of Final Research Achievements

1)I did genomic study of 27 pseudohypoparathyroidism 1B (PHP1B) patients with broad methylation changes at GNAS locus. 2) I found 2 patients had paternal uniparental disomy at long arm of 20 chromosome out of 27 sporadic PHP1B patients. 3) Regarding 23 patients, Idid whole genome sequence at STX-GNAS locus. I did not see new findings. 4) Regarding 1patient, Idid SNP-CGH array study. I did not see loss of heterozygosity.

Free Research Field

小児科