摘要
Objective To explore the collagen,type Ⅰ,α 1 chain(COL1A1)gene mutation in a family with type 1 osteogenesis imperfect.Methods The medical records and DNA samples of an osteogenesis imperfect patient and her family members were collected,and their DNA sequencing was performed and compared with 50 nonrelative healthy control from the same area.Results The proband and her three family members(father,younger brother,and younger nephew)with clinical features of osteogenesis imperfect as well as prolactinoma were confirmed of COL1A1 gene mutation at the 24th intron with a shear mutation of c.1669-1 G>A which was not reported previously.Other family members were genetically normal compared with the normal.Conclusion We found a new COL1A1 gene mutation family and mutation site,but the relationship between osteogenesis imperfect and prolactinoma was unknown.
作者
HAN Songmei
韩松梅(Dept Endocrinol,Hainan Branch,Chinese PLA General Hosp)