1987 Fiscal Year Final Research Report Summary

Growth hormone gene analysis and its clinical application in patients with isolated growth hormone dificiency

Research Project

Project/Area Number	61480219
Research Category	Grant-in-Aid for General Scientific Research (B)
Allocation Type	Single-year Grants
Research Field	Pediatrics
Research Institution	Kumamoto University
Principal Investigator	MATSUD Ichiro Kumamoto University Medical School, Professor, 医学部, 教授 (10000986)
Co-Investigator(Kenkyū-buntansha)	ENDO Fumio Kumamoto University Hospital, Lecture, 医学部付属病院, 講師 (00176801) AKABOSHI Izumi Kumamoto University Medical School, Instructor, 医学部, 助手 (30145312)
Project Period (FY)	1986 – 1987
Keywords	Isolated growth hormone (hGH) deficiency / 成長ホルモン遺伝子欠失 / ヒト成長ホルモン / 抗成長ホルモン抗体
Research Abstract	We studied five Japanese patients with isolated growth hormone (hGH) deficiency from four families, and four patients were second cousins. Each patient was homozygous for a deletion of approximately 7.5 kilobases, which included the hGH-N gene. The deletions in four patients belonging to three different families were associated with the same restriction fragment length polymorphism haplotype, while the deletion of the other patient was associated with a different haplothype.